(used for variant description)
(last modified June 23, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002203.3 in the ITGA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008330.1, covering ITGA2 transcript NM_002203.3.
(upstream sequence)
. . g.5023
ttttccctgctctcaccgggcgg c.-121
. . . . . . g.5083
gggagagaagccctctggacagcttctagagtgtgcaggttctcgtatccctcggccaag c.-61
. . . . . . g.5143
ggtatcctctgcaaacctctgcaaacccagcgcaactacggtcccccggtcagacccagg c.-1
. . . . . . g.5203
ATGGGGCCAGAACGGACAGGGGCCGCGCCGCTGCCGCTGCTGCTGGTGTTAGCGCTCAGT c.60
M G P E R T G A A P L P L L L V L A L S p.20
| 02 . . . . . . g.42478
CAAG | GCATTTTAAATTGTTGTTTGGCCTACAATGTTGGTCTCCCAGAAGCAAAAATATTT c.120
Q G | I L N C C L A Y N V G L P E A K I F p.40
. . . . . . g.42538
TCCGGTCCTTCAAGTGAACAGTTTGGCTATGCAGTGCAGCAGTTTATAAATCCAAAAGGC c.180
S G P S S E Q F G Y A V Q Q F I N P K G p.60
| 03 . . . . . . g.57841
AACTG | GTTACTGGTTGGTTCACCCTGGAGTGGCTTTCCTGAGAACCGAATGGGAGATGTG c.240
N W | L L V G S P W S G F P E N R M G D V p.80
. . . . . | 04 . g.60680
TATAAATGTCCTGTTGACCTATCCACTGCCACATGTGAAAAACTAAATTTGCAAA | CTTCA c.300
Y K C P V D L S T A T C E K L N L Q T | S p.100
. . . . . . g.60740
ACAAGCATTCCAAATGTTACTGAGATGAAAACCAACATGAGCCTCGGCTTGATCCTCACC c.360
T S I P N V T E M K T N M S L G L I L T p.120
. . | 05. . . . g.64070
AGGAACATGGGAACTGGAGGTTTTCTC | ACATGTGGTCCTCTGTGGGCACAGCAATGTGGG c.420
R N M G T G G F L | T C G P L W A Q Q C G p.140
. . . . . . g.64130
AATCAGTATTACACAACGGGTGTGTGTTCTGACATCAGTCCTGATTTTCAGCTCTCAGCC c.480
N Q Y Y T T G V C S D I S P D F Q L S A p.160
. . | 06 . . . . g.64355
AGCTTCTCACCTGCAACTCAGC | CCTGCCCTTCCCTCATAGATGTTGTGGTTGTGTGTGAT c.540
S F S P A T Q P | C P S L I D V V V V C D p.180
. . . . . . g.64415
GAATCAAATAGTATTTATCCTTGGGATGCAGTAAAGAATTTTTTGGAAAAATTTGTACAA c.600
E S N S I Y P W D A V K N F L E K F V Q p.200
. . . | 07 . . . g.67115
GGCCTGGATATAGGCCCCACAAAGACACAG | GTGGGGTTAATTCAGTATGCCAATAATCCA c.660
G L D I G P T K T Q | V G L I Q Y A N N P p.220
. . . . . . g.67175
AGAGTTGTGTTTAACTTGAACACATATAAAACCAAAGAAGAAATGATTGTAGCAACATCC c.720
R V V F N L N T Y K T K E E M I V A T S p.240
. . . . . | 08 g.71213
CAGACATCCCAATATGGTGGGGACCTCACAAACACATTCGGAGCAATTCAATATGCAAG | A c.780
Q T S Q Y G G D L T N T F G A I Q Y A R | p.260
. . . . . . g.71273
AAATATGCTTATTCAGCAGCTTCTGGTGGGCGACGAAGTGCTACGAAAGTAATGGTAGTT c.840
K Y A Y S A A S G G R R S A T K V M V V p.280
. . . . . . g.71333
GTAACTGACGGTGAATCACATGATGGTTCAATGTTGAAAGCTGTGATTGATCAATGCAAC c.900
V T D G E S H D G S M L K A V I D Q C N p.300
. . . | 09 . . . g.71688
CATGACAATATACTGAGGTTTGGCATAGCA | GTTCTTGGGTACTTAAACAGAAACGCCCTT c.960
H D N I L R F G I A | V L G Y L N R N A L p.320
. . . . . . g.71748
GATACTAAAAATTTAATAAAAGAAATAAAAGCAATCGCTAGTATTCCAACAGAAAGATAC c.1020
D T K N L I K E I K A I A S I P T E R Y p.340
. . . . . . g.71808
TTTTTCAATGTGTCTGATGAAGCAGCTCTACTAGAAAAGGCTGGGACATTAGGAGAACAA c.1080
F F N V S D E A A L L E K A G T L G E Q p.360
. | 10 . . . . . g.73743
ATTTTCAGCATTGAAG | GTACTGTTCAAGGAGGAGACAACTTTCAGATGGAAATGTCACAA c.1140
I F S I E G | T V Q G G D N F Q M E M S Q p.380
. . . | 11 . . . g.75575
GTGGGATTCAGTGCAGATTACTCTTCTCAAAAT | GATATTCTGATGCTGGGTGCAGTGGGA c.1200
V G F S A D Y S S Q N | D I L M L G A V G p.400
. . . . . . g.75635
GCTTTTGGCTGGAGTGGGACCATTGTCCAGAAGACATCTCATGGCCATTTGATCTTTCCT c.1260
A F G W S G T I V Q K T S H G H L I F P p.420
. . . . . | 12 . g.76583
AAACAAGCCTTTGACCAAATTCTGCAGGACAGAAATCACAGTTCATATTTAG | GTTACTCT c.1320
K Q A F D Q I L Q D R N H S S Y L G | Y S p.440
. . . . . . g.76643
GTGGCTGCAATTTCTACTGGAGAAAGCACTCACTTTGTTGCTGGTGCTCCTCGGGCAAAT c.1380
V A A I S T G E S T H F V A G A P R A N p.460
. . . . . . g.76703
TATACCGGCCAGATAGTGCTATATAGTGTGAATGAGAATGGCAATATCACGGTTATTCAG c.1440
Y T G Q I V L Y S V N E N G N I T V I Q p.480
. | 13 . . . . g.78502
GCTCACCGAGGTGACCAG | ATTGGCTCCTATTTTGGTAGTGTGCTGTGTTCAGTTGATGTG c.1500
A H R G D Q | I G S Y F G S V L C S V D V p.500
. . . . . . g.78562
GATAAAGACACCATTACAGACGTGCTCTTGGTAGGTGCACCAATGTACATGAGTGACCTA c.1560
D K D T I T D V L L V G A P M Y M S D L p.520
. . . . | 14 . . g.80604
AAGAAAGAGGAAGGAAGAGTCTACCTGTTTACTATCAAAGAG | GGCATTTTGGGTCAGCAC c.1620
K K E E G R V Y L F T I K E | G I L G Q H p.540
. . . . . . g.80664
CAATTTCTTGAAGGCCCCGAGGGCATTGAAAACACTCGATTTGGTTCAGCAATTGCAGCT c.1680
Q F L E G P E G I E N T R F G S A I A A p.560
. . . . . . g.80724
CTTTCAGACATCAACATGGATGGCTTTAATGATGTGATTGTTGGTTCACCACTAGAAAAT c.1740
L S D I N M D G F N D V I V G S P L E N p.580
. . . . . . g.80784
CAGAATTCTGGAGCTGTATACATTTACAATGGTCATCAGGGCACTATCCGCACAAAGTAT c.1800
Q N S G A V Y I Y N G H Q G T I R T K Y p.600
| 15 . . . . . . g.81569
TCCCAG | AAAATCTTGGGATCCGATGGAGCCTTTAGGAGCCATCTCCAGTACTTTGGGAGG c.1860
S Q | K I L G S D G A F R S H L Q Y F G R p.620
. . . . . . g.81629
TCCTTGGATGGCTATGGAGATTTAAATGGGGATTCCATCACCGATGTGTCTATTGGTGCC c.1920
S L D G Y G D L N G D S I T D V S I G A p.640
. . | 16 . . . . g.82829
TTTGGACAAGTGGTTCAACTCTG | GTCACAAAGTATTGCTGATGTAGCTATAGAAGCTTCA c.1980
F G Q V V Q L W | S Q S I A D V A I E A S p.660
. . . . . . g.82889
TTCACACCAGAAAAAATCACTTTGGTCAACAAGAATGCTCAGATAATTCTCAAACTCTGC c.2040
F T P E K I T L V N K N A Q I I L K L C p.680
. . . . | 17 . . g.85800
TTCAGTGCAAAGTTCAGACCTACTAAGCAAAACAATCAAGTGG | CCATTGTATATAACATC c.2100
F S A K F R P T K Q N N Q V A | I V Y N I p.700
. . . . . . g.85860
ACACTTGATGCAGATGGATTTTCATCCAGAGTAACCTCCAGGGGGTTATTTAAAGAAAAC c.2160
T L D A D G F S S R V T S R G L F K E N p.720
. . . . . . g.85920
AATGAAAGGTGCCTGCAGAAGAATATGGTAGTAAATCAAGCACAGAGTTGCCCCGAGCAC c.2220
N E R C L Q K N M V V N Q A Q S C P E H p.740
. | 18 . . . . . g.87657
ATCATTTATATACAG | GAGCCCTCTGATGTTGTCAACTCTTTGGATTTGCGTGTGGACATC c.2280
I I Y I Q | E P S D V V N S L D L R V D I p.760
. . . . . . g.87717
AGTCTGGAAAACCCTGGCACTAGCCCTGCCCTTGAAGCCTATTCTGAGACTGCCAAGGTC c.2340
S L E N P G T S P A L E A Y S E T A K V p.780
| 19 . . . . . . g.88341
TTCAGT | ATTCCTTTCCACAAAGACTGTGGTGAGGACGGACTTTGCATTTCTGATCTAGTC c.2400
F S | I P F H K D C G E D G L C I S D L V p.800
. . | 20 . . . g.88823
CTAGATGTCCGACAAATACCAGCTGCTCA | AGAACAACCCTTTATTGTCAGCAACCAAAAC c.2460
L D V R Q I P A A Q | E Q P F I V S N Q N p.820
. . . . . . g.88883
AAAAGGTTAACATTTTCAGTAACGCTGAAAAATAAAAGGGAAAGTGCATACAACACTGGA c.2520
K R L T F S V T L K N K R E S A Y N T G p.840
. . . . . | 21 . g.90068
ATTGTTGTTGATTTTTCAGAAAACTTGTTTTTTGCATCATTCTCCCTGCCG | GTTGATGGG c.2580
I V V D F S E N L F F A S F S L P | V D G p.860
. . . . . . g.90128
ACAGAAGTAACATGCCAGGTGGCTGCATCTCAGAAGTCTGTTGCCTGCGATGTAGGCTAC c.2640
T E V T C Q V A A S Q K S V A C D V G Y p.880
. . | 22 . . . . g.90771
CCTGCTTTAAAGAGAGAACAACAG | GTGACTTTTACTATTAACTTTGACTTCAATCTTCAA c.2700
P A L K R E Q Q | V T F T I N F D F N L Q p.900
. . . . | 23 . . g.90914
AACCTTCAGAATCAGGCGTCTCTCAGTTTCCAAGCCTTAAG | TGAAAGCCAAGAAGAAAAC c.2760
N L Q N Q A S L S F Q A L S | E S Q E E N p.920
. . . . . . g.90974
AAGGCTGATAATTTGGTCAACCTCAAAATTCCTCTCCTGTATGATGCTGAAATTCACTTA c.2820
K A D N L V N L K I P L L Y D A E I H L p.940
| 24 . . . . . . g.94501
ACAAG | ATCTACCAACATAAATTTTTATGAAATCTCTTCGGATGGGAATGTTCCTTCAATC c.2880
T R | S T N I N F Y E I S S D G N V P S I p.960
. . . . | 25 . g.96197
GTGCACAGTTTTGAAGATGTTGGTCCAAAATTCATCTTCTCCCTGAAG | GTAACAACAGGA c.2940
V H S F E D V G P K F I F S L K | V T T G p.980
. . . . . . g.96257
AGTGTTCCAGTAAGCATGGCAACTGTAATCATCCACATCCCTCAGTATACCAAAGAAAAG c.3000
S V P V S M A T V I I H I P Q Y T K E K p.1000
. . . | 26 . . g.97287
AACCCACTGATGTACCTAACTGGGGTGCAAACAGACAAG | GCTGGTGACATCAGTTGTAAT c.3060
N P L M Y L T G V Q T D K | A G D I S C N p.1020
. . . . . . g.97347
GCAGATATCAATCCACTGAAAATAGGACAAACATCTTCTTCTGTATCTTTCAAAAGTGAA c.3120
A D I N P L K I G Q T S S S V S F K S E p.1040
. . | 27 . . . . g.99050
AATTTCAGGCACACCAAAGAATTG | AACTGCAGAACTGCTTCCTGTAGTAATGTTACCTGC c.3180
N F R H T K E L | N C R T A S C S N V T C p.1060
. . . . . . g.99110
TGGTTGAAAGACGTTCACATGAAAGGAGAATACTTTGTTAATGTGACTACCAGAATTTGG c.3240
W L K D V H M K G E Y F V N V T T R I W p.1080
. | 28 . . . . g.102668
AACGGGACTTTCGCATCA | TCAACGTTCCAGACAGTACAGCTAACGGCAGCTGCAGAAATC c.3300
N G T F A S | S T F Q T V Q L T A A A E I p.1100
. . . . | 29 . g.105632
AACACCTATAACCCTGAGATATATGTGATTGAAGATAACACTGTTACG | ATTCCCCTGATG c.3360
N T Y N P E I Y V I E D N T V T | I P L M p.1120
. . . . . . g.105692
ATAATGAAACCTGATGAGAAAGCCGAAGTACCAACAGGAGTTATAATAGGAAGTATAATT c.3420
I M K P D E K A E V P T G V I I G S I I p.1140
. . . . | 30 . . g.106208
GCTGGAATCCTTTTGCTGTTAGCTCTGGTTGCAATTTTATGGAAG | CTCGGCTTCTTCAAA c.3480
A G I L L L L A L V A I L W K | L G F F K p.1160
. . . . . . g.106268
AGAAAATATGAAAAGATGACCAAAAATCCAGATGAGATTGATGAGACCACAGAGCTCAGT c.3540
R K Y E K M T K N P D E I D E T T E L S p.1180
g.106274
AGCTGA c.3546
S X p.1181
. . . . . . g.106334
accagcagacctacctgcagtgggaaccggcagcatcccagccagggtttgctgtttgcg c.*60
. . . . . . g.106394
tgaatggatttctttttaaatcccatattttttttatcatgtcgtaggtaaactaacctg c.*120
. . . . . . g.106454
gtattttaagagaaaactgcaggtcagtttggaatgaagaaattgtggggggtgggggag c.*180
. . . . . . g.106514
gtgcggggggcaggtagggaaataatagggaaaatacctattttatatgatgggggaaaa c.*240
. . . . . . g.106574
aaagtaatctttaaactggctggcccagagtttacattctaatttgcattgtgtcagaaa c.*300
. . . . . . g.106634
catgaaatgcttccaagcatgacaacttttaaagaaaaatatgatactctcagattttaa c.*360
. . . . . . g.106694
gggggaaaactgttctctttaaaatatttgtctttaaacagcaactacagaagtggaagt c.*420
. . . . . . g.106754
gcttgatatgtaagtacttccacttgtgtatattttaatgaatattgatgttaacaagag c.*480
. . . . . . g.106814
gggaaaacaaaacacaggttttttcaatttatgctgctcatccaaagttgccacagatga c.*540
. . . . . . g.106874
tacttccaagtgataattttatttataaactaggtaaaatttgttgttggttccttttag c.*600
. . . . . . g.106934
accacggctgccccttccacaccccatcttgctctaatgatcaaaacatgcttgaataac c.*660
. . . . . . g.106994
tgagcttagagtatacctcctatatgtccatttaagttaggagagggggcgatatagaga c.*720
. . . . . . g.107054
ataaggcacaaaattttgtttaaaactcagaatataacatgtaaaatcccatctgctaga c.*780
. . . . . . g.107114
agcccatcctgtgccagaggaaggaaaaggaggaaatttcctttctcttttaggaggcac c.*840
. . . . . . g.107174
aacagttctcttctaggatttgtttggctgactggcagtaacctagtgaatttctgaaag c.*900
. . . . . . g.107234
atgagtaatttctttggcaaccttcctcctcccttactgaaccactctcccacctcctgg c.*960
. . . . . . g.107294
tggtaccattattatagaagccctctacagcctgactttctctccagcggtccaaagtta c.*1020
. . . . . . g.107354
tcccctcctttacccctcatccaaagttcccactccttcaggacagctgctgtgcattag c.*1080
. . . . . . g.107414
atattaggggggaaagtcatctgtttaatttacacacttgcatgaattactgtatataaa c.*1140
. . . . . . g.107474
ctccttaacttcagggagctattttcatttagtgctaaacaagtaagaaaaataagctcg c.*1200
. . . . . . g.107534
agtgaatttctaaatgttggaatgttatgggatgtaaacaatgtaaagtaagacatctca c.*1260
. . . . . . g.107594
ggatttcaccagaagttacagatgaggcactggaagccaccaaattagcaggtgcacctt c.*1320
. . . . . . g.107654
ctgtggctgtcttgtttctgaagtacttaaacttccacaagagtgaatttgacctaggca c.*1380
. . . . . . g.107714
agtttgttcaaaaggtagatcctgagatgatttggtcagattgggataaggcccagcaat c.*1440
. . . . . . g.107774
ctgcattttaacaagcaccccagtcactaggatgcagatggaccacactttgagaaacac c.*1500
. . . . . . g.107834
cacccatttctactttttgcaccttattttctctgttcctgagcccccacattctctagg c.*1560
. . . . . . g.107894
agaaacttagaggaaaagggcacagacactacatatctaaagctttggacaagtccttga c.*1620
. . . . . . g.107954
cctctataaacttcagagtcctcattataaaatgggaagactgagctggagttcagcagt c.*1680
. . . . . . g.108014
gatgcttttagttttaaaagtctatgatctggacttcctataatacaaatacacaatcct c.*1740
. . . . . . g.108074
ccaagaatttgacttggaaaaaaatgtcaaaggaaaacaggttatctgcccatgtgcata c.*1800
. . . . . . g.108134
tggacaaccttgactaccctggcctggcccgtggtggcagtccagggctatctgtactgt c.*1860
. . . . . . g.108194
ttacagaattactttgtagttgacaacacaaaacaaacaaaaaaggcataaaatgccagc c.*1920
. . . . . . g.108254
ggtttatagaaaaaacagcatggtattctccagttaggtatgccagagtccaattctttt c.*1980
. . . . . . g.108314
aacagctgtgagaatttgctgcttcattccaacaaaattttatttaaaaaaaaaaaaaaa c.*2040
. . . . . . g.108374
agactggagaaactagtcattagcttgataaagaatatttaacagctagtggtgctggtg c.*2100
. . . . . . g.108434
tgtacctgaagctccagctacttgagagactgagacaggaagatcgcttgagcccaggag c.*2160
. . . . . . g.108494
ttcaagtccagcctaagcaacatagcaagaccctgtctcaaaaaaatgactatttaaaaa c.*2220
. . . . . . g.108554
gacaatgtggccaggcacggtggctcacacctgtaatcccaacactttgggaggctgagg c.*2280
. . . . . . g.108614
ccggtggatcacgaggtcaggagtttgagactagcctggccaacatggtgaaaccccatc c.*2340
. . . . . . g.108674
tctaataatataaaaattagctgggcgtagtagcaggtgcctgtaatcccagttactcgg c.*2400
. . . . . . g.108734
gaagctgaggcaggagaatcacttgaacccgggaggcagaggtttcagtgagccgagatc c.*2460
. . . . . . g.108794
gcgccactgcactccagcctgggtgacagggcaagactctgtctcaaacaaacaaacaaa c.*2520
. . . . . . g.108854
aaaaaagttagtactgtatatgtaaatactagcttttcaatgtgctatacaaacaattat c.*2580
. . . . . . g.108914
agcacatccttccttttactctgtctcacctcctttaggtgagtacttccttaaataagt c.*2640
. . . . . . g.108974
gctaaacatacatatacggaacttgaaagctttggttagccttgccttaggtaatcagcc c.*2700
. . . . . . g.109034
tagtttacactgtttccagggagtagttgaattactataaaccattagccacttgtctct c.*2760
. . . . . . g.109094
gcaccatttatcacaccaggacagggtctctcaacctgggcgctactgtcatttggggcc c.*2820
. . . . . . g.109154
aggtgattcttccttgcaggggctgtcctgtaccttgtaggacagcagccctgtcctaga c.*2880
. . . . . . g.109214
aggtatgtttagcagcattcctggcctctagctacccgatgccagagcatgctccccccg c.*2940
. . . . . . g.109274
cagtcatgacaatcaaaaaatgtctccagacattgtcaaatgcctcctggggggcagtat c.*3000
. . . . . . g.109334
ttctcaagcacttttaagcaaaggtaagtattcatacaagaaatttagggggaaaaaaca c.*3060
. . . . . . g.109394
ttgtttaaataaaagctatgtgttcctattcaacaatatttttgctttaaaagtaagtag c.*3120
. . . . . . g.109454
agggcataaaagatgtcatattcaaatttccatttcataaatggtgtacagacaaggtct c.*3180
. . . . . . g.109514
atagaatgtggtaaaaacttgactgcaacacaaggcttataaaatagtaagatagtaaaa c.*3240
. . . . . . g.109574
tagcttatgaagaaactacagagatttaaaattgtgcatgactcatttcagcagcaaaat c.*3300
. . . . . . g.109634
aagaactcctaactgaacagaaatttttctacctagcaatgttattcttgtaaaatagtt c.*3360
. . . . . . g.109694
acctattaaaactgtgaagagtaaaactaaagccaatttattatagtcacacaagtgatt c.*3420
. . . . . . g.109754
atactaaaaattattataaaggttataattttataatgtatttacctgtcctgatatata c.*3480
. . . . . . g.109814
gctataacccaatatatgaaaatctcaaaaattaagacatcatcatacagaaggcaggat c.*3540
. . . . . . g.109874
tccttaaactgagatccctgatccatctttaatatttcaatttgcacacataaaacaatg c.*3600
. . . . . . g.109934
cccttttgtgtacattcaggcatacccattttaatcaatttgaaaggttaatttaaacct c.*3660
. . . . . . g.109994
ctagaggtgaatgagaaacatgggggaaaagtatgaaataggtgaaaatcttaactattt c.*3720
. . . . . . g.110054
ctttgaactctaaagactgaaactgtagccattatgtaaataaagtttcatatgtacctg c.*3780
. . . . . . g.110114
tttattttggcagattaagtcaaaatatgaatgtatatattgcataactatgttagaatt c.*3840
. . . . . . g.110174
gtatatattttaaagaaattgtcttggatattttcctttatacataatagataagtcttt c.*3900
. . . . . . g.110234
tttcaaatgtggtgtttgatgtttttgattaaatgtgttttgcctctttccacaaaaact c.*3960
. . . . . . g.110294
gtaaaaataaatgcatgtttgtacaaaaagttgcagaattcatttgatttatgagaaaca c.*4020
. . . . . . g.110354
aaaattaaattgtagtcaacagttagtagtttttctcatatccaagtataacaaacagaa c.*4080
. . . . . . g.110414
aagtttcattattgtaacccacttttttcataccacattattgaatattgttacaattgt c.*4140
. . . . g.110454
tttgaaaataaagccattttctttgggcttttataagtta c.*4180
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 13
©2004-2015 Leiden University Medical Center