(used for variant description)
(last modified February 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000400.3 in the ERCC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007067.2, covering ERCC2 transcript NM_000400.3.
(upstream sequence)
. . . . g.5047
ttcatgagggaggcgggtcgaccccgctgcacagtccggccggcgcc c.-1
| 02 . . . . . . g.5410
ATGAA | GCTCAACGTGGACGGGCTCCTGGTCTACTTCCCGTACGACTACATCTACCCCGAG c.60
M K | L N V D G L L V Y F P Y D Y I Y P E p.20
. . . . | 03 . . g.6455
CAGTTCTCCTACATGCGGGAGCTCAAACGCACGCTGGACGCCAAG | GGTCATGGAGTCCTG c.120
Q F S Y M R E L K R T L D A K | G H G V L p.40
. . . . . . g.6515
GAGATGCCCTCAGGCACCGGGAAGACAGTATCCCTGTTGGCCCTGATCATGGCATACCAG c.180
E M P S G T G K T V S L L A L I M A Y Q p.60
| 04 . . . . . . g.6652
AGA | GCATATCCGCTGGAGGTGACCAAACTCATCTACTGCTCAAGAACTGTGCCAGAGATT c.240
R | A Y P L E V T K L I Y C S R T V P E I p.80
| 05 . . . . . . g.6898
GAGAAG | GTGATTGAAGAGCTTCGAAAGTTGCTCAACTTCTATGAGAAGCAGGAGGGCGAG c.300
E K | V I E E L R K L L N F Y E K Q E G E p.100
. . . . . . g.6958
AAGCTGCCGTTTCTGGGACTGGCTCTGAGCTCCCGCAAAAACTTGTGTATTCACCCTGAG c.360
K L P F L G L A L S S R K N L C I H P E p.120
| 06 . . . . . . g.10489
| GTGACACCCCTGCGCTTTGGGAAGGACGTCGATGGGAAATGCCACAGCCTCACAGCCTCC c.420
| V T P L R F G K D V D G K C H S L T A S p.140
. . . . . | 07. g.10636
TATGTGCGGGCGCAGTACCAGCATGACACCAGCCTGCCCCACTGCCGATTCTATGAG | GAA c.480
Y V R A Q Y Q H D T S L P H C R F Y E | E p.160
. . . . . . g.10696
TTTGATGCCCATGGGCGTGAGGTGCCCCTCCCCGCTGGCATCTACAACCTGGATGACCTG c.540
F D A H G R E V P L P A G I Y N L D D L p.180
. . . . . | 08 . g.11046
AAGGCCCTGGGGCGGCGCCAGGGCTGGTGCCCATACTTCCTTGCTCGATACTCA | ATCCTG c.600
K A L G R R Q G W C P Y F L A R Y S | I L p.200
. . . . . . g.11106
CATGCCAATGTGGTGGTTTATAGCTACCACTACCTCCTGGACCCCAAGATTGCAGACCTG c.660
H A N V V V Y S Y H Y L L D P K I A D L p.220
. . . . . | 09 g.11258
GTGTCCAAGGAACTGGCCCGCAAGGCCGTCGTGGTCTTCGACGAGGCCCACAACATTG | AC c.720
V S K E L A R K A V V V F D E A H N I D | p.240
. . . . . . g.11318
AACGTCTGCATCGACTCCATGAGCGTCAACCTCACCCGCCGGACCCTTGACCGGTGCCAG c.780
N V C I D S M S V N L T R R T L D R C Q p.260
. . . | 10 . . . g.11493
GGCAACCTGGAGACCCTGCAGAAGACGGTGCTCAG | GATCAAAGAGACAGACGAGCAGCGC c.840
G N L E T L Q K T V L R | I K E T D E Q R p.280
. . . . . . g.11553
CTGCGGGACGAGTACCGGCGTCTGGTGGAGGGGCTGCGGGAGGCCAGCGCCGCCCGGGAG c.900
L R D E Y R R L V E G L R E A S A A R E p.300
. . . . | 11 . g.11687
ACGGACGCCCACCTGGCCAACCCCGTGCTGCCCGACGAAGTGCTGCAGG | AGGCAGTGCCT c.960
T D A H L A N P V L P D E V L Q E | A V P p.320
. . . . . . g.11747
GGCTCCATCCGCACGGCCGAGCATTTCCTGGGCTTCCTGAGGCGGCTGCTGGAGTACGTG c.1020
G S I R T A E H F L G F L R R L L E Y V p.340
. . . . . . g.11807
AAGTGGCGGCTGCGTGTGCAGCATGTGGTGCAGGAGAGCCCGCCCGCCTTCCTGAGCGGC c.1080
K W R L R V Q H V V Q E S P P A F L S G p.360
. . . | 12 . . g.13967
CTGGCCCAGCGCGTGTGCATCCAGCGCAAGCCCCTCAG | ATTCTGTGCTGAACGCCTCCGG c.1140
L A Q R V C I Q R K P L R | F C A E R L R p.380
. . . . . . g.14027
TCCCTGCTGCATACTCTGGAGATCACCGACCTTGCTGACTTCTCCCCGCTCACCCTCCTT c.1200
S L L H T L E I T D L A D F S P L T L L p.400
. . . | 13. . . g.17911
GCTAACTTTGCCACCCTTGTCAGCACCTACGCCAAAG | GCTTCACCATCATCATCGAGCCC c.1260
A N F A T L V S T Y A K G | F T I I I E P p.420
. . . . | 14. . g.18057
TTTGACGACAGAACCCCGACCATTGCCAACCCCATCCTGCACTTCAG | CTGCATGGACGCC c.1320
F D D R T P T I A N P I L H F S | C M D A p.440
. . . . . | 15. g.18219
TCGCTGGCCATCAAACCCGTATTTGAGCGTTTCCAGTCTGTCATCATCACATCTGGG | ACA c.1380
S L A I K P V F E R F Q S V I I T S G | T p.460
. . . . . . g.18279
CTGTCCCCGCTGGACATCTACCCCAAGATCCTGGACTTCCACCCCGTCACCATGGCAACC c.1440
L S P L D I Y P K I L D F H P V T M A T p.480
. . . | 16 . . g.19880
TTCACCATGACGCTGGCACGGGTCTGCCTCTGCCCTATG | ATCATCGGCCGTGGCAATGAC c.1500
F T M T L A R V C L C P M | I I G R G N D p.500
. . . . | 17 . . g.20753
CAGGTGGCCATCAGCTCCAAATTTGAGACCCGGGAGGATATTG | CTGTGATCCGGAACTAT c.1560
Q V A I S S K F E T R E D I A | V I R N Y p.520
. . . . . . g.20813
GGGAACCTCCTGCTGGAGATGTCCGCTGTGGTCCCTGATGGCATCGTGGCCTTCTTCACC c.1620
G N L L L E M S A V V P D G I V A F F T p.540
. . . . | 18 . . g.22268
AGCTACCAGTACATGGAGAGCACCGTGGCCTCCTGGTATGAGCAG | GGGATCCTTGAGAAC c.1680
S Y Q Y M E S T V A S W Y E Q | G I L E N p.560
. . . . . . g.22328
ATCCAGAGGAACAAGCTGCTCTTTATTGAGACCCAGGATGGTGCCGAAACCAGTGTCGCC c.1740
I Q R N K L L F I E T Q D G A E T S V A p.580
. | 19 . . . . g.22474
CTGGAGAAGTACCAGGAG | GCCTGCGAGAATGGCCGCGGGGCCATCCTGCTGTCAGTGGCC c.1800
L E K Y Q E | A C E N G R G A I L L S V A p.600
. . . | 20 . . . g.22800
CGGGGCAAAGTGTCCGAGGGAATCGACTTTG | TGCACCACTACGGGCGGGCCGTCATCATG c.1860
R G K V S E G I D F V | H H Y G R A V I M p.620
. . . . | 21 . . g.22956
TTTGGCGTCCCCTACGTCTACACACAGAGCCGCATTCTCAAG | GCGCGGCTGGAATACCTG c.1920
F G V P Y V Y T Q S R I L K | A R L E Y L p.640
. . . . . . g.23016
CGGGACCAGTTCCAGATTCGTGAGAATGACTTTCTTACCTTCGATGCCATGCGCCACGCG c.1980
R D Q F Q I R E N D F L T F D A M R H A p.660
. . . . . . g.23076
GCCCAGTGTGTGGGTCGGGCCATCAGGGGCAAGACGGACTACGGCCTCATGGTCTTTGCC c.2040
A Q C V G R A I R G K T D Y G L M V F A p.680
| 22 . . . . . . g.23289
GACAAG | CGGTTTGCCCGTGGGGACAAGCGGGGGAAGCTGCCCCGCTGGATCCAGGAGCAC c.2100
D K | R F A R G D K R G K L P R W I Q E H p.700
. . . . . . g.23349
CTCACAGATGCCAACCTCAACCTGACCGTGGACGAGGGTGTCCAGGTGGCCAAGTACTTC c.2160
L T D A N L N L T V D E G V Q V A K Y F p.720
. . . | 23 . . . g.23896
CTGCGGCAGATGGCACAGCCCTTCCACCGG | GAGGATCAGCTGGGCCTGTCCCTGCTCAGC c.2220
L R Q M A Q P F H R | E D Q L G L S L L S p.740
. . . . . . g.23956
CTGGAGCAGCTAGAATCAGAGGAGACGCTGAAGAGGATAGAGCAGATTGCTCAGCAGCTC c.2280
L E Q L E S E E T L K R I E Q I A Q Q L p.760
g.23959
TGA c.2283
X p.760
. . . . . . g.24019
gtggggcgggtggggccataaacggttcctggtgactcctgagtcttgcctggccctggt c.*60
. . . . . . g.24079
tcccagcggcggtggtgctagaaggtcttatgaagtcaggtgacatttctcactgtcacg c.*120
. . . . . . g.24139
tccacagcctttaatcgcaggagaaggcagctatccaccaggtacccagaggcaaggggg c.*180
. . . . . g.24197
ggccaggagatgatagaccccctctcaccccaccagcccatccctcctgcactgttcc c.*238
(downstream sequence)
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