(used for variant description)
(last modified January 23, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_020760.1 in the HECW2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering HECW2 transcript NM_020760.1.
(upstream sequence)
g.5003
att c.-181
. . . . . . g.5063
tgagcatcagttgagggagaggacgcttcatttcctttttggttgggaatgtgccgtgaa c.-121
. . . . . . g.5123
catcctctgctggagcttggggcctggagcaaactggggctgcagatttagacgtagacg c.-61
. . . | 02 . . . g.164188
tttccgaggacgcgagactgcagag | ctttgtaggcagccaatcccagagaagcagacggg c.-1
. . . . . . g.164248
ATGGCTAGTTCAGCCCGGGAGCACCTGCTTTTTGTGAGGCGTCGAAATCCCCAGATGCGG c.60
M A S S A R E H L L F V R R R N P Q M R p.20
. . . . . . g.164308
TACACATTGAGCCCAGAGAACCTCCAGAGCCTTGCCGCCCAGAGCTCCATGCCAGAGAAC c.120
Y T L S P E N L Q S L A A Q S S M P E N p.40
. . . . . . g.164368
ATGACCCTGCAGCGGGCCAACAGCGACACCGACCTGGTGACTTCTGAGAGCCGCTCCAGC c.180
M T L Q R A N S D T D L V T S E S R S S p.60
. . . . . . g.164428
TTAACTGCCAGCATGTACGAGTACACGCTGGGGCAAGCCCAGAACCTCATTATCTTCTGG c.240
L T A S M Y E Y T L G Q A Q N L I I F W p.80
. . . . . | 03 . g.253855
GACATTAAAGAGGAGGTGGACCCCAGTGATTGGATTGGACTTTATCATATAG | ATGAGAAT c.300
D I K E E V D P S D W I G L Y H I D | E N p.100
. . . . . . g.253915
TCTCCAGCCAACTTCTGGGATTCTAAGAACAGGGGTGTGACTGGAACACAAAAAGGGCAA c.360
S P A N F W D S K N R G V T G T Q K G Q p.120
. . . . | 04 . . g.263113
ATTGTATGGAGAATTGAGCCTGGGCCCTATTTCATGGAAC | CGGAGATAAAAATCTGTTTT c.420
I V W R I E P G P Y F M E P | E I K I C F p.140
. . . . . . g.263173
AAATATTACCACGGCATTAGTGGAGCCCTGCGAGCCACGACCCCCTGCATCACCGTGAAG c.480
K Y Y H G I S G A L R A T T P C I T V K p.160
. | 05 . . . . . g.268006
AACCCAGCTGTGATG | ATGGGGGCAGAAGGCATGGAGGGAGGTGCTTCAGGAAACCTGCAT c.540
N P A V M | M G A E G M E G G A S G N L H p.180
. . . | 06 . . . g.272491
TCTCGAAAACTTGTTAGCTTTACATTGTCAG | ATCTTAGGGCAGTTGGGCTAAAGAAAGGG c.600
S R K L V S F T L S D | L R A V G L K K G p.200
. . . . . . g.272551
ATGTTCTTCAATCCTGACCCTTATCTTAAGATGTCAATTCAGCCAGGAAAGAAGAGCAGT c.660
M F F N P D P Y L K M S I Q P G K K S S p.220
. . . . . . g.272611
TTCCCCACCTGTGCCCACCACGGGCAGGAGAGACGGTCTACTATCATCAGTAACACCACC c.720
F P T C A H H G Q E R R S T I I S N T T p.240
. . | 07 . . . . g.275030
AATCCAATTTGGCACCGAGAG | AAATATTCCTTTTTTGCACTTCTTACTGATGTCTTAGAA c.780
N P I W H R E | K Y S F F A L L T D V L E p.260
. . . . . . g.275090
ATTGAAATTAAAGACAAATTTGCCAAGAGCCGTCCCATCATCAAGCGTTTTCTGGGGAAA c.840
I E I K D K F A K S R P I I K R F L G K p.280
. . . . | 08 . . g.277188
CTAACCATTCCAGTCCAGAGGCTGCTGGAGCGACAAGCCATCGG | TGATCAAATGCTCAGC c.900
L T I P V Q R L L E R Q A I G | D Q M L S p.300
. . . . . . g.277248
TACAACCTTGGCAGAAGGCTCCCAGCTGACCACGTGAGTGGGTACCTCCAGTTTAAAGTG c.960
Y N L G R R L P A D H V S G Y L Q F K V p.320
. . | 09 . . . . g.277742
GAGGTTACGTCTTCTGTTCATGAAG | ATGCCTCTCCAGAAGCTGTTGGCACAATACTTGGA c.1020
E V T S S V H E D | A S P E A V G T I L G p.340
. . . . . . g.277802
GTCAATTCTGTGAATGGAGACTTAGGTAGCCCTTCCGATGACGAGGACATGCCAGGGAGC c.1080
V N S V N G D L G S P S D D E D M P G S p.360
. . . . . . g.277862
CATCACGACAGCCAGGTGTGCTCTAATGGGCCAGTTTCTGAGGACAGTGCTGCCGATGGA c.1140
H H D S Q V C S N G P V S E D S A A D G p.380
. . . . . . g.277922
ACCCCCAAGCATTCATTCAGGACTAGCTCCACTCTGGAAATAGACACAGAGGAATTAACC c.1200
T P K H S F R T S S T L E I D T E E L T p.400
. . . . . . g.277982
TCTACGTCTTCAAGGACCTCACCTCCCAGAGGACGTCAGGATTCACTCAATGATTACTTA c.1260
S T S S R T S P P R G R Q D S L N D Y L p.420
. . . . . . g.278042
GATGCTATCGAACACAATGGCCACTCCAGGCCGGGGACAGCGACCTGCTCTGAGAGGTCC c.1320
D A I E H N G H S R P G T A T C S E R S p.440
. . . . . . g.278102
ATGGGTGCCTCTCCGAAACTGAGGAGTAGTTTTCCCACTGACACAAGACTCAATGCCATG c.1380
M G A S P K L R S S F P T D T R L N A M p.460
. . . . . . g.278162
CTTCATATTGATTCAGATGAAGAAGATCACGAGTTCCAGCAAGACCTGGGTTACCCATCT c.1440
L H I D S D E E D H E F Q Q D L G Y P S p.480
. . . . . . g.278222
TCCTTGGAGGAGGAGGGAGGCCTGATCATGTTTAGCAGGGCATCCAGAGCTGATGATGGA c.1500
S L E E E G G L I M F S R A S R A D D G p.500
. . . . . . g.278282
AGCCTGACATCTCAGACAAAGCTGGAGGACAACCCTGTTGAGAATGAGGAAGCCTCCACA c.1560
S L T S Q T K L E D N P V E N E E A S T p.520
. . . . . . g.278342
CACGAAGCTGCTTCCTTTGAGGATAAGCCAGAAAATCTTCCAGAGCTTGCAGAGAGCTCC c.1620
H E A A S F E D K P E N L P E L A E S S p.540
. . . . . . g.278402
TTACCTGCAGGCCCAGCCCCAGAGGAAGGTGAAGGCGGCCCAGAGCCTCAACCCAGTGCT c.1680
L P A G P A P E E G E G G P E P Q P S A p.560
. . . . . . g.278462
GACCAGGGCAGTGCTGAACTGTGTGGCTCTCAAGAGGTAGATCAGCCCACAAGTGGCGCA c.1740
D Q G S A E L C G S Q E V D Q P T S G A p.580
. . . . . . g.278522
GACACAGGGACTTCCGATGCATCAGGAGGAAGCCGAAGAGCCGTCAGTGAGACCGAGTCT c.1800
D T G T S D A S G G S R R A V S E T E S p.600
. . . . . . g.278582
CTCGATCAGGGCTCTGAGCCTTCCCAGGTGTCCTCTGAAACAGAACCCAGTGATCCTGCC c.1860
L D Q G S E P S Q V S S E T E P S D P A p.620
. . . . . . g.278642
AGGACAGAGAGTGTGAGCGAAGCCAGCACCAGGCCTGAGGGAGAGAGTGACCTGGAATGC c.1920
R T E S V S E A S T R P E G E S D L E C p.640
. . . . . . g.278702
GCTGACAGCTCCTGCAATGAGAGTGTGACCACGCAGCTGTCCTCTGTGGACACACGGTGC c.1980
A D S S C N E S V T T Q L S S V D T R C p.660
. . . . . . g.278762
TCCTCTCTTGAGAGCGCACGGTTTCCTGAAACCCCAGCCTTTTCTTCTCAGGAGGAGGAA c.2040
S S L E S A R F P E T P A F S S Q E E E p.680
. . . . . . g.278822
GACGGAGCCTGTGCAGCAGAGCCCACCAGCAGTGGCCCTGCCGAAGGGTCGCAGGAATCC c.2100
D G A C A A E P T S S G P A E G S Q E S p.700
. . . . . . g.278882
GTGTGCACTGCTGGTTCTTTACCTGTGGTACAGGTGCCCAGTGGGGAGGATGAAGGGCCA c.2160
V C T A G S L P V V Q V P S G E D E G P p.720
. . . . . . g.278942
GGGGCAGAATCGGCCACTGTACCTGACCAGGAGGAGCTGGGGGAGGTCTGGCAGCGGAGG c.2220
G A E S A T V P D Q E E L G E V W Q R R p.740
. . . . . . g.279002
GGGAGCCTGGAGGGAGCTGCAGCTGCTGCCGAGAGCCCACCGCAAGAAGAAGGCAGTGCT c.2280
G S L E G A A A A A E S P P Q E E G S A p.760
. . . . . | 10 g.280244
GGGGAGGCCCAAGGCACCTGTGAAGGGGCAACTGCCCAGGAGGAGGGCGCTACTGGAG | GT c.2340
G E A Q G T C E G A T A Q E E G A T G G | p.780
. . . . . . g.280304
TCTCAAGCCAACGGCCACCAGCCACTGCGATCACTACCTTCAGTGCGCCAGGATGTTAGC c.2400
S Q A N G H Q P L R S L P S V R Q D V S p.800
. . . | 11 . . . g.289552
CGGTACCAGAGGGTGGACGAGGCTCTCCCACCAA | ACTGGGAGGCACGCATTGACAGCCAC c.2460
R Y Q R V D E A L P P N | W E A R I D S H p.820
. . . . . . g.289612
GGCAGGATCTTCTACGTGGATCACGTAAACAGAACCACGACGTGGCAGCGACCGACAGCT c.2520
G R I F Y V D H V N R T T T W Q R P T A p.840
. . . . . . g.289672
CCCCCAGCCCCGCAGGTGCTGCAGAGATCTAACTCCATACAGCAAATGGAGCAGCTGAAC c.2580
P P A P Q V L Q R S N S I Q Q M E Q L N p.860
| 12 . . . . . . g.290433
CGGCG | ATATCAGAGTATCCGCAGAACCATGACCAATGAGAGGCCTGAGGAAAATACCAAT c.2640
R R | Y Q S I R R T M T N E R P E E N T N p.880
. . . . | 13 . g.291010
GCTATTGATGGGGCAGGGGAGGAAGCTGACTTTCACCAAGCCAGTGCAG | ATTTCCGACGG c.2700
A I D G A G E E A D F H Q A S A D | F R R p.900
. . . . . . g.291070
GAGAACATCCTGCCTCACTCTACCTCCAGATCCAGGATCACGTTGCTGTTACAGTCTCCC c.2760
E N I L P H S T S R S R I T L L L Q S P p.920
. . . . . | 14 . g.304867
CCCGTGAAGTTCCTCATCAGCCCAGAGTTCTTCACCGTGCTGCATTCTAACCCT | AGTGCC c.2820
P V K F L I S P E F F T V L H S N P | S A p.940
. . . . . . g.304927
TACCGCATGTTTACAAACAACACGTGTTTGAAGCACATGATCACCAAAGTCCGGAGGGAC c.2880
Y R M F T N N T C L K H M I T K V R R D p.960
. . . . . . g.304987
ACCCACCACTTTGAACGCTACCAGCATAACCGCGACCTTGTGGGATTCCTCAACATGTTC c.2940
T H H F E R Y Q H N R D L V G F L N M F p.980
. . . . . . g.305047
GCGAACAAACAGCTAGAGCTGCCGCGGGGATGGGAAATGAAACATGATCACCAGGGCAAG c.3000
A N K Q L E L P R G W E M K H D H Q G K p.1000
| 15 . . . . . . g.319009
| GCATTCTTTGTGGACCACAACTCCCGCACCACCACTTTCATTGATCCCCGGCTCCCACTT c.3060
| A F F V D H N S R T T T F I D P R L P L p.1020
. . . . . . g.319069
CAGAGCAGTAGACCCACAAGTGCGCTGGTTCATCGGCAACACCTGACAAGGCAACGCAGC c.3120
Q S S R P T S A L V H R Q H L T R Q R S p.1040
. | 16 . . . . . g.323533
CACAGTGCGGGTGAG | GTAGGAGAAGATTCTCGACATGCAGGACCACCAGTTCTTCCCAGG c.3180
H S A G E | V G E D S R H A G P P V L P R p.1060
. . . . . | 17 g.326324
CCATCCAGTACATTCAATACAGTCAGTAGGCCACAGTACCAGGACATGGTTCCAGTGG | CT c.3240
P S S T F N T V S R P Q Y Q D M V P V A | p.1080
. . . . . . g.326384
TACAATGACAAGATTGTTGCATTTCTACGTCAACCCAATATCTTTGAAATTCTACAGGAG c.3300
Y N D K I V A F L R Q P N I F E I L Q E p.1100
. . . | 18 . . . g.339730
CGTCAACCTGATCTTACCAGGAATCACTCACTCAG | GGAGAAGATCCAATTTATCCGAACT c.3360
R Q P D L T R N H S L R | E K I Q F I R T p.1120
. . . . . | 19 g.343583
GAAGGGACTCCAGGATTGGTGCGCCTTTCAAGCGATGCAGACCTTGTTATGTTGCTGAG | C c.3420
E G T P G L V R L S S D A D L V M L L S | p.1140
. . . . . . g.343643
TTATTTGAAGAAGAGATAATGTCGTATGTGCCTCCACATGCCTTACTCCACCCCAGCTAC c.3480
L F E E E I M S Y V P P H A L L H P S Y p.1160
. . . . | 20 . g.355418
TGTCAGTCCCCACGTGGCTCTCCCGTGTCATCTCCTCAGAACTCGCCAG | GTACCCAGCGT c.3540
C Q S P R G S P V S S P Q N S P G | T Q R p.1180
. . . . . . g.355478
GCCAATGCCCGGGCTCCAGCCCCTTACAAGCGGGATTTCGAAGCCAAACTGAGGAACTTT c.3600
A N A R A P A P Y K R D F E A K L R N F p.1200
. . . . . | 21 . g.357059
TACAGGAAGTTAGAGACTAAAGGATATGGACAAGGCCCAGGGAAGTTAAA | GTTAATTATC c.3660
Y R K L E T K G Y G Q G P G K L K | L I I p.1220
. . . . . . g.357119
CGAAGAGATCACTTACTAGAAGATGCTTTTAATCAGATTATGGGCTACTCCAGAAAAGAC c.3720
R R D H L L E D A F N Q I M G Y S R K D p.1240
. . . . | 22 . . g.369373
CTGCAGAGAAATAAGCTATATGTCACCTTCGTTGGGGAGGAAGG | GCTGGATTACAGTGGG c.3780
L Q R N K L Y V T F V G E E G | L D Y S G p.1260
. . . . . . g.369433
CCTTCTAGAGAGTTTTTCTTCCTGGTATCCAGAGAACTCTTTAACCCATATTATGGCTTA c.3840
P S R E F F F L V S R E L F N P Y Y G L p.1280
. . . . . . g.369493
TTTGAATATTCAGCCAATGACACATACACAGTACAAATAAGTCCTATGTCTGCTTTTGTA c.3900
F E Y S A N D T Y T V Q I S P M S A F V p.1300
. | 23. . . . . g.371784
GACAATCACCATGAATG | GTTCCGATTCAGTGGTAGGATCCTTGGTCTTGCACTAATACAC c.3960
D N H H E W | F R F S G R I L G L A L I H p.1320
. . . . . | 24 . g.375275
CAGTATTTGTTGGATGCCTTCTTCACACGGCCCTTTTATAAGGCTCTTCTCAGAAT | TCTA c.4020
Q Y L L D A F F T R P F Y K A L L R I | L p.1340
. . . . . . g.375335
TGTGACCTGAGTGACCTAGAATACCTTGATGAAGAGTTCCATCAGAGCCTGCAGTGGATG c.4080
C D L S D L E Y L D E E F H Q S L Q W M p.1360
. . . . . . g.375395
AAAGACAATGATATCCATGACATCCTAGACCTCACGTTCACTGTGAACGAAGAAGTATTT c.4140
K D N D I H D I L D L T F T V N E E V F p.1380
| 25 . . . . . . g.376724
GGGCAG | ATAACTGAACGAGAATTAAAGCCAGGGGGTGCCAATATCCCAGTTACAGAGAAG c.4200
G Q | I T E R E L K P G G A N I P V T E K p.1400
. . . . . . g.376784
AACAAGAAGGAGTACATCGAGAGGATGGTGAAGTGGAGGATTGAGAGGGGTGTTGTACAG c.4260
N K K E Y I E R M V K W R I E R G V V Q p.1420
. . . | 26 . . . g.377485
CAAACAGAGAGCTTAGTGCGTGGCTTCTATGAG | GTGGTGGATGCCAGGCTGGTATCTGTT c.4320
Q T E S L V R G F Y E | V V D A R L V S V p.1440
. . . . . . g.377545
TTTGATGCAAGAGAACTGGAATTGGTCATCGCAGGCACAGCTGAAATAGACCTAAGTGAT c.4380
F D A R E L E L V I A G T A E I D L S D p.1460
. . | 27 . . . g.380550
TGGAGAAACAACACAGAATATAGAGGAG | GATACCATGACAATCATATTGTAATTCGGTGG c.4440
W R N N T E Y R G G | Y H D N H I V I R W p.1480
. . . . . | 28 . g.381640
TTCTGGGCTGCAGTGGAAAGATTCAACAATGAACAACGACTAAGGTTGTTACAG | TTTGTT c.4500
F W A A V E R F N N E Q R L R L L Q | F V p.1500
. . . . . . g.381700
ACAGGCACATCCAGCATTCCCTATGAAGGATTTGCTTCACTCCGAGGGAGTAACGGCCCA c.4560
T G T S S I P Y E G F A S L R G S N G P p.1520
. . . . | 29. . g.396236
AGAAGATTCTGTGTGGAGAAATGGGGGAAAATCACTGCTCTTCCCAG | AGCGCATACATGT c.4620
R R F C V E K W G K I T A L P R | A H T C p.1540
. . . . . . g.396296
TTTAACCGTCTGGATCTGCCTCCCTACCCATCCTTTTCCATGCTTTATGAAAAACTGTTG c.4680
F N R L D L P P Y P S F S M L Y E K L L p.1560
. . . g.396335
ACAGCAGTTGAAGAAACCAGTACTTTTGGACTTGAGTGA c.4719
T A V E E T S T F G L E X p.1572
. . . . . . g.396395
cctggaagctgaatgcccatctctgtggacaggcaggttcagaagctgccttctagaaga c.*60
. . . . . . g.396455
atgattgaacattggaagtttcaagaggatgcttcctttaggataaagctatgtgctgtt c.*120
. . . . . . g.396515
gttttccaggaacaagtgctctgtcacatttggggactggagatgagtcctcttggaagg c.*180
. . . . . . g.396575
atttgggtgagcttgatgcccagggaacaacccaaccgtctttcaatcaacagttcttga c.*240
. . . . . . g.396635
ctgccaaactttttccatttgttatgttccaagacaaagatgaacccatacatgatcagc c.*300
. . . . . . g.396695
tccacggtaatttttagggactcaggagaatcttgaaacttacccttgaacgtggttcaa c.*360
. . . . . . g.396755
gccaaactggcagcatttggcccaatctccaaattagagcaagttaaataatataataaa c.*420
. . . . . . g.396815
agtaaatatatttcctgaaagtacattcatttaagccctaagttataacagaatattcat c.*480
. . . . . . g.396875
ttcttgcttatgagtgcctgcatggtgtgcaccataggtttccgctttcatgggacatga c.*540
. . . . . . g.396935
gtgaaaatgaaaccaagtcaatatgaggtacctttacagatttgcaataagatggtctgt c.*600
. . . . . . g.396995
gacaatgtatatgcaagtggtatgtgtgtaattatggctaaagacaaaccattattcagt c.*660
. . . . . . g.397055
gaattactaatgacagattttatgctttataatgcatgaaaacaattttaaaataactag c.*720
. . . . . . g.397115
caattaatcacagcatatcaggaaaaagtacacagtgagttctgtttattttttgtaggt c.*780
. . . . . . g.397175
tcattatgtttatgttctttaagatgtatataagaacctacctatcatgctgtatgtatc c.*840
. . . . . . g.397235
actcattccattttcatgttccatgcatactcgggcatcatgctaatatgtatcctttta c.*900
. . . . . . g.397295
agcactctcaaggaaacaaaagggccttttatttttataaaggtaaaaaaaattccccaa c.*960
. . . . . . g.397355
atattttgcactgaatgtaccaaaggtgaagggacattacaatatgactaacagcaactc c.*1020
. . . . . . g.397415
catcacttgagaagtataatagaaaatagcttctaaatcaaacttccttcacagtgccgt c.*1080
. . . . . . g.397475
gtctaccactacaaggactgtgcatctaagtaataattttttaagattcactatatgtga c.*1140
. . . . . . g.397535
tagtatgatatgcatttatttaaaatgcattagactctcttccatccatcaaatacttta c.*1200
. . . . . . g.397595
caggatggcatttaatacagatatttcgtatttcccccactgctttttatttgtacagca c.*1260
. . . . . . g.397655
tcattaaacactaagctcagttaaggagccatcagcaacactgaagagatcagtagtaag c.*1320
. . . . . . g.397715
aattccattttccctcatcagtgaagacaccacaaattgaaactcagaactatatttcta c.*1380
. . . . . . g.397775
agcctgcattttcactgatgcataattttcttattaatattaagagacagtttttctatg c.*1440
. . . . . . g.397835
gcatctccaaaactgcatgacatcactagtcttacttctgcttaattttatgagaaggta c.*1500
. . . . . . g.397895
ttcttcattttaattgcttttgggattactccacatctttgtttatttcttgactaatca c.*1560
. . . . . . g.397955
gattttcaatagagtgaagttaaattgggggtcataaaagcattggattgacatatggtt c.*1620
. . . . . . g.398015
tgccagcctatgggtttacaggcattgcccaaacatttctttgagatctatatttataag c.*1680
. . . . . . g.398075
cagccatggaattcctattatgggatgttggcaatcttacattttatagaggtcatatgc c.*1740
. . . . . . g.398135
atagttttcataggtgttttgtaagaactgattgctctcctgtgagttaagctatgttta c.*1800
. . . . . . g.398195
ctactgggaccctcaagaggaataccacttatgttacactcctgcactaaaggcacgtac c.*1860
. . . . . . g.398255
tgcagtgtgaagaaatgttctgaaaaagggttatagaaatctggaaataagaaaggaaga c.*1920
. . . . . . g.398315
gctctctgtattctataattggaagagaaaaaaagaaaaacttttaactggaaatgttag c.*1980
. . . . g.398359
tttgtacttattgatcatgaatacaagtatatatttaattttgc c.*2024
(downstream sequence)
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