(used for variant description)
(last modified December 10, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_000419.3 in the ITGA2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering ITGA2B transcript NM_000419.3.
(upstream sequence)
. . . g.5032
attcctgcctgggaggttgtggaagaaggaag c.-1
. . . . . . g.5092
ATGGCCAGAGCTTTGTGTCCACTGCAAGCCCTCTGGCTTCTGGAGTGGGTGCTGCTGCTC c.60
M A R A L C P L Q A L W L L E W V L L L p.20
. . . . . . g.5152
TTGGGACCTTGTGCTGCCCCTCCAGCCTGGGCCTTGAACCTGGACCCAGTGCAGCTCACC c.120
L G P C A A P P A W A L N L D P V Q L T p.40
. . . . . . g.5212
TTCTATGCAGGCCCCAATGGCAGCCAGTTTGGATTTTCACTGGACTTCCACAAGGACAGC c.180
F Y A G P N G S Q F G F S L D F H K D S p.60
| 02 . . . . . g.8426
CATGGGAG | AGTGGCCATCGTGGTGGGCGCCCCGCGGACCCTGGGCCCCAGCCAGGAGGAG c.240
H G R | V A I V V G A P R T L G P S Q E E p.80
. . . . . . g.8486
ACGGGCGGCGTGTTCCTGTGCCCCTGGAGGGCCGAGGGCGGCCAGTGCCCCTCGCTGCTC c.300
T G G V F L C P W R A E G G Q C P S L L p.100
. | 03 . . . . . g.8634
TTTGACCTCC | GTGATGAGACCCGAAATGTAGGCTCCCAAACTTTACAAACCTTCAAGGCC c.360
F D L R | D E T R N V G S Q T L Q T F K A p.120
. . . . | 04 . g.8801
CGCCAAGGACTGGGGGCGTCGGTCGTCAGCTGGAGCGACGTCATTGTG | GCCTGCGCCCCC c.420
R Q G L G A S V V S W S D V I V | A C A P p.140
. . . . . . g.8861
TGGCAGCACTGGAACGTCCTAGAAAAGACTGAGGAGGCTGAGAAGACGCCCGTAGGTAGC c.480
W Q H W N V L E K T E E A E K T P V G S p.160
. . . . . . g.8921
TGCTTTTTGGCTCAGCCAGAGAGCGGCCGCCGCGCCGAGTACTCCCCCTGTCGCGGGAAC c.540
C F L A Q P E S G R R A E Y S P C R G N p.180
. . . | 05 . . . g.9196
ACCCTGAGCCGCATTTACGTGGAAAATGATTTTA | GCTGGGACAAGCGTTACTGTGAAGCG c.600
T L S R I Y V E N D F S | W D K R Y C E A p.200
. . | 06 . . . . g.9332
GGCTTCAGCTCCGTGGTCACTCAG | GCCGGAGAGCTGGTGCTTGGGGCTCCTGGCGGCTAT c.660
G F S S V V T Q | A G E L V L G A P G G Y p.220
. | 07 . . . . . g.9479
TATTTCTTAG | GTCTCCTGGCCCAGGCTCCAGTTGCGGATATTTTCTCGAGTTACCGCCCA c.720
Y F L G | L L A Q A P V A D I F S S Y R P p.240
. . . . . . g.9539
GGCATCCTTTTGTGGCACGTGTCCTCCCAGAGCCTCTCCTTTGACTCCAGCAACCCAGAG c.780
G I L L W H V S S Q S L S F D S S N P E p.260
. | 08 . . . . g.9961
TACTTCGACGGCTACTGGG | GGTACTCGGTGGCCGTGGGCGAGTTCGACGGGGATCTCAAC c.840
Y F D G Y W G | Y S V A V G E F D G D L N p.280
| 09. . . . . | 10 . g.10376
ACTACAG | AATATGTCGTCGGTGCCCCCACTTGGAGCTGGACCCTGGGAGCG | GTGGAAATT c.900
T T E | Y V V G A P T W S W T L G A | V E I p.300
. . . . | 11 . . g.10574
TTGGATTCCTACTACCAGAGGCTGCATCGGCTGCGCGGAGAGCAG | ATGGCGTCGTATTTT c.960
L D S Y Y Q R L H R L R G E Q | M A S Y F p.320
. . . | 12 . . g.10823
GGGCATTCAGTGGCTGTCACTGACGTCAACGGGGATGG | GAGGCATGATCTGCTGGTGGGC c.1020
G H S V A V T D V N G D G | R H D L L V G p.340
. . . . . . g.10883
GCTCCACTGTATATGGAGAGCCGGGCAGACCGAAAACTGGCCGAAGTGGGGCGTGTGTAT c.1080
A P L Y M E S R A D R K L A E V G R V Y p.360
. . . . . . g.10943
TTGTTCCTGCAGCCGCGAGGCCCCCACGCGCTGGGTGCCCCCAGCCTCCTGCTGACTGGC c.1140
L F L Q P R G P H A L G A P S L L L T G p.380
. . . . . . g.11003
ACACAGCTCTATGGGCGATTCGGCTCTGCCATCGCACCCCTGGGCGACCTCGACCGGGAT c.1200
T Q L Y G R F G S A I A P L G D L D R D p.400
. | 13 . . . . . g.13494
GGCTACAATG | ACATTGCAGTGGCTGCCCCCTACGGGGGTCCCAGTGGCCGGGGCCAAGTG c.1260
G Y N D | I A V A A P Y G G P S G R G Q V p.420
. . . . . . g.13554
CTGGTGTTCCTGGGTCAGAGTGAGGGGCTGAGGTCACGTCCCTCCCAGGTCCTGGACAGC c.1320
L V F L G Q S E G L R S R P S Q V L D S p.440
. . . . . . g.13614
CCCTTCCCCACAGGCTCTGCCTTTGGCTTCTCCCTTCGAGGTGCCGTAGACATCGATGAC c.1380
P F P T G S A F G F S L R G A V D I D D p.460
. | 14 . . . . | 15 g.14016
AACGGATACCCAG | ACCTGATCGTGGGAGCTTACGGGGCCAACCAGGTGGCTGTGTACAG | A c.1440
N G Y P D | L I V G A Y G A N Q V A V Y R | p.480
. . . . . . g.14076
GCTCAGCCAGTGGTGAAGGCCTCTGTCCAGCTACTGGTGCAAGATTCACTGAATCCTGCT c.1500
A Q P V V K A S V Q L L V Q D S L N P A p.500
. . . . | 16 . . g.14220
GTGAAGAGCTGTGTCCTACCTCAGACCAAGACACCCGTGAGCTG | CTTCAACATCCAGATG c.1560
V K S C V L P Q T K T P V S C | F N I Q M p.520
. . . . | 17 . . g.14372
TGTGTTGGAGCCACTGGGCACAACATTCCTCAGAAGCTAT | CCCTAAATGCCGAGCTGCAG c.1620
C V G A T G H N I P Q K L S | L N A E L Q p.540
. . . . . . g.14432
CTGGACCGGCAGAAGCCCCGCCAGGGCCGGCGGGTGCTGCTGCTGGGCTCTCAACAGGCA c.1680
L D R Q K P R Q G R R V L L L G S Q Q A p.560
. . . . . . g.14492
GGCACCACCCTGAACCTGGATCTGGGCGGAAAGCACAGCCCCATCTGCCACACCACCATG c.1740
G T T L N L D L G G K H S P I C H T T M p.580
. | 18 . . . . . g.14739
GCCTTCCTTCGA | GATGAGGCAGACTTCCGGGACAAGCTGAGCCCCATTGTGCTCAGCCTC c.1800
A F L R | D E A D F R D K L S P I V L S L p.600
. . . . . . g.14799
AATGTGTCCCTACCGCCCACGGAGGCTGGAATGGCCCCTGCTGTCGTGCTGCATGGAGAC c.1860
N V S L P P T E A G M A P A V V L H G D p.620
. | 19 . . . . g.15837
ACCCATGTGCAGGAGCAG | ACACGAATCGTCCTGGACTGTGGGGAAGATGACGTATGTGTG c.1920
T H V Q E Q | T R I V L D C G E D D V C V p.640
. . | 20 . . . . g.16030
CCCCAGCTTCAGCTCACTGCCAGCGT | GACGGGCTCCCCGCTCCTAGTTGGGGCAGATAAT c.1980
P Q L Q L T A S V | T G S P L L V G A D N p.660
. . . . . . g.16090
GTCCTGGAGCTGCAGATGGACGCAGCCAACGAGGGCGAGGGGGCCTATGAAGCAGAGCTG c.2040
V L E L Q M D A A N E G E G A Y E A E L p.680
. . . . . | 21 . g.16721
GCCGTGCACCTGCCCCAGGGCGCCCACTACATGCGGGCCCTAAGCAATGTCGAG | GGCTTT c.2100
A V H L P Q G A H Y M R A L S N V E | G F p.700
. . . . . . g.16781
GAGAGACTCATCTGTAATCAGAAGAAGGAGAATGAGACCAGGGTGGTGCTGTGTGAGCTG c.2160
E R L I C N Q K K E N E T R V V L C E L p.720
. . | 22. . . . g.17450
GGCAACCCCATGAAGAAGAACGCCCAG | ATAGGAATCGCGATGTTGGTGAGCGTGGGGAAT c.2220
G N P M K K N A Q | I G I A M L V S V G N p.740
. . . . | 23. . g.18130
CTGGAAGAGGCTGGGGAGTCTGTGTCCTTCCAGCTGCAGATACGGAG | CAAGAACAGCCAG c.2280
L E E A G E S V S F Q L Q I R S | K N S Q p.760
. . . . . . g.18190
AATCCAAACAGCAAGATTGTGCTGCTGGACGTGCCGGTCCGGGCAGAGGCCCAAGTGGAG c.2340
N P N S K I V L L D V P V R A E A Q V E p.780
| 24 . . . . . g.18373
CTGCGAGG | GAACTCCTTTCCAGCCTCCCTGGTGGTGGCAGCAGAAGAAGGTGAGAGGGAG c.2400
L R G | N S F P A S L V V A A E E G E R E p.800
. . . . | 25 . g.18532
CAGAACAGCTTGGACAGCTGGGGACCCAAAGTGGAGCACACCTATGAG | CTCCACAACAAT c.2460
Q N S L D S W G P K V E H T Y E | L H N N p.820
. . . . . . g.18592
GGCCCTGGGACTGTGAATGGTCTTCACCTCAGCATCCACCTTCCGGGACAGTCCCAGCCC c.2520
G P G T V N G L H L S I H L P G Q S Q P p.840
. . . . . . g.18652
TCCGACCTGCTCTACATCCTGGATATACAGCCCCAGGGGGGCCTTCAGTGCTTCCCACAG c.2580
S D L L Y I L D I Q P Q G G L Q C F P Q p.860
. . | 26 . . . . g.18828
CCTCCTGTCAACCCTCTCAAG | GTGGACTGGGGGCTGCCCATCCCCAGCCCCTCCCCCATT c.2640
P P V N P L K | V D W G L P I P S P S P I p.880
. . . . . . g.18888
CACCCGGCCCATCACAAGCGGGATCGCAGACAGATCTTCCTGCCAGAGCCCGAGCAGCCC c.2700
H P A H H K R D R R Q I F L P E P E Q P p.900
. . | 27. . . . g.19427
TCGAGGCTTCAGGATCCAGTTCTCGTA | AGCTGCGACTCGGCGCCCTGTACTGTGGTGCAG c.2760
S R L Q D P V L V | S C D S A P C T V V Q p.920
. . . . . . g.19487
TGTGACCTGCAGGAGATGGCGCGCGGGCAGCGGGCCATGGTCACGGTGCTGGCCTTCCTG c.2820
C D L Q E M A R G Q R A M V T V L A F L p.940
. . | 28 . . . . g.19784
TGGCTGCCCAGCCTCTACCAG | AGGCCTCTGGATCAGTTTGTGCTGCAGTCGCACGCATGG c.2880
W L P S L Y Q | R P L D Q F V L Q S H A W p.960
. . . . . . g.19844
TTCAACGTGTCCTCCCTCCCCTATGCGGTGCCCCCGCTCAGCCTGCCCCGAGGGGAAGCT c.2940
F N V S S L P Y A V P P L S L P R G E A p.980
| 29 . . . . . . g.20092
CAG | GTGTGGACACAGCTGCTCCGGGCCTTGGAGGAGAGGGCCATTCCAATCTGGTGGGTG c.3000
Q | V W T Q L L R A L E E R A I P I W W V p.1000
. . . . . . g.20152
CTGGTGGGTGTGCTGGGTGGCCTGCTGCTGCTCACCATCCTGGTCCTGGCCATGTGGAAG c.3060
L V G V L G G L L L L T I L V L A M W K p.1020
| 30 . . . . . . g.22142
| GTCGGCTTCTTCAAGCGGAACCGGCCACCCCTGGAAGAAGATGATGAAGAGGGGGAGTGA c.3120
| V G F F K R N R P P L E E D D E E G E X p.1039
. . . . . . g.22202
tggtgcagcctacactattctagcaggagggttgggcgtgctacctgcaccgccccttct c.*60
. . . . . . g.22262
ccaacaagttgcctccaagctttgggttggagctgttccattgggtcctcttggtgtcgt c.*120
. . . . . . g.22322
ttccctcccaacagagctgggctaccccccctcctgctgcctaataaagagactgagccc c.*180
g.22324
tg c.*182
(downstream sequence)
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