(used for variant description)
(last modified April 16, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004431.3 in the EPHA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021396.1, covering EPHA2 transcript NM_004431.3.
(upstream sequence)
. . . g.5035
ggttctcacccaacttccattaaggactcggggca c.-121
. . . . . . g.5095
ggaggggcagaagttgcgcgcaggccggcgggcgggagcggacaccgaggccggcgtgca c.-61
. . . . . . g.5155
ggcgtgcgggtgtgcgggagccgggctcggggggatcggaccgagagcgagaagcgcggc c.-1
. . . . . . g.5215
ATGGAGCTCCAGGCAGCCCGCGCCTGCTTCGCCCTGCTGTGGGGCTGTGCGCTGGCCGCG c.60
M E L Q A A R A C F A L L W G C A L A A p.20
. . | 02 . . . . g.10159
GCCGCGGCGGCGCAGGGCAAGGAAG | TGGTACTGCTGGACTTTGCTGCAGCTGGAGGGGAG c.120
A A A A Q G K E V | V L L D F A A A G G E p.40
. . . | 03 . . . g.12067
CTCGGCTGGCTCACACACCCGTATGGCAAAGGG | TGGGACCTGATGCAGAACATCATGAAT c.180
L G W L T H P Y G K G | W D L M Q N I M N p.60
. . . . . . g.12127
GACATGCCGATCTACATGTACTCCGTGTGCAACGTGATGTCTGGCGACCAGGACAACTGG c.240
D M P I Y M Y S V C N V M S G D Q D N W p.80
. . . . . . g.12187
CTCCGCACCAACTGGGTGTACCGAGGAGAGGCTGAGCGTATCTTCATTGAGCTCAAGTTT c.300
L R T N W V Y R G E A E R I F I E L K F p.100
. . . . . . g.12247
ACTGTACGTGACTGCAACAGCTTCCCTGGTGGCGCCAGCTCCTGCAAGGAGACTTTCAAC c.360
T V R D C N S F P G G A S S C K E T F N p.120
. . . . . . g.12307
CTCTACTATGCCGAGTCGGACCTGGACTACGGCACCAACTTCCAGAAGCGCCTGTTCACC c.420
L Y Y A E S D L D Y G T N F Q K R L F T p.140
. . . . . . g.12367
AAGATTGACACCATTGCGCCCGATGAGATCACCGTCAGCAGCGACTTCGAGGCACGCCAC c.480
K I D T I A P D E I T V S S D F E A R H p.160
. . . . . . g.12427
GTGAAGCTGAACGTGGAGGAGCGCTCCGTGGGGCCGCTCACCCGCAAAGGCTTCTACCTG c.540
V K L N V E E R S V G P L T R K G F Y L p.180
. . . . . . g.12487
GCCTTCCAGGATATCGGTGCCTGTGTGGCGCTGCTCTCCGTCCGTGTCTACTACAAGAAG c.600
A F Q D I G A C V A L L S V R V Y Y K K p.200
. . . . . . g.12547
TGCCCCGAGCTGCTGCAGGGCCTGGCCCACTTCCCTGAGACCATCGCCGGCTCTGATGCA c.660
C P E L L Q G L A H F P E T I A G S D A p.220
. . . . . . g.12607
CCTTCCCTGGCCACTGTGGCCGGCACCTGTGTGGACCATGCCGTGGTGCCACCGGGGGGT c.720
P S L A T V A G T C V D H A V V P P G G p.240
. . . . . . g.12667
GAAGAGCCCCGTATGCACTGTGCAGTGGATGGCGAGTGGCTGGTGCCCATTGGGCAGTGC c.780
E E P R M H C A V D G E W L V P I G Q C p.260
. . . . | 04 . . g.22674
CTGTGCCAGGCAGGCTACGAGAAGGTGGAGGATGCCTGCCAGG | CCTGCTCGCCTGGATTT c.840
L C Q A G Y E K V E D A C Q A | C S P G F p.280
. . . . . . g.22734
TTTAAGTTTGAGGCATCTGAGAGCCCCTGCTTGGAGTGCCCTGAGCACACGCTGCCATCC c.900
F K F E A S E S P C L E C P E H T L P S p.300
. . . . . . g.22794
CCTGAGGGTGCCACCTCCTGCGAGTGTGAGGAAGGCTTCTTCCGGGCACCTCAGGACCCA c.960
P E G A T S C E C E E G F F R A P Q D P p.320
. | 05 . . . . g.22943
GCGTCGATGCCTTGCACAC | GACCCCCCTCCGCCCCACACTACCTCACAGCCGTGGGCATG c.1020
A S M P C T R | P P S A P H Y L T A V G M p.340
. . . . . . g.23003
GGTGCCAAGGTGGAGCTGCGCTGGACGCCCCCTCAGGACAGCGGGGGCCGCGAGGACATT c.1080
G A K V E L R W T P P Q D S G G R E D I p.360
. . . . . . g.23063
GTCTACAGCGTCACCTGCGAACAGTGCTGGCCCGAGTCTGGGGAATGCGGGCCGTGTGAG c.1140
V Y S V T C E Q C W P E S G E C G P C E p.380
. . . . . . g.23123
GCCAGTGTGCGCTACTCGGAGCCTCCTCACGGACTGACCCGCACCAGTGTGACAGTGAGC c.1200
A S V R Y S E P P H G L T R T S V T V S p.400
. . . . . . g.23183
GACCTGGAGCCCCACATGAACTACACCTTCACCGTGGAGGCCCGCAATGGCGTCTCAGGC c.1260
D L E P H M N Y T F T V E A R N G V S G p.420
. . . . . | 06 . g.25325
CTGGTAACCAGCCGCAGCTTCCGTACTGCCAGTGTCAGCATCAACCAGACAG | AGCCCCCC c.1320
L V T S R S F R T A S V S I N Q T E | P P p.440
. . . . . . g.25385
AAGGTGAGGCTGGAGGGCCGCAGCACCACCTCGCTTAGCGTCTCCTGGAGCATCCCCCCG c.1380
K V R L E G R S T T S L S V S W S I P P p.460
. . . . | 07 . g.25910
CCGCAGCAGAGCCGAGTGTGGAAGTACGAGGTCACTTACCGCAAGAAG | GGAGACTCCAAC c.1440
P Q Q S R V W K Y E V T Y R K K | G D S N p.480
. . . . . . g.25970
AGCTACAATGTGCGCCGCACCGAGGGTTTCTCCGTGACCCTGGACGACCTGGCCCCAGAC c.1500
S Y N V R R T E G F S V T L D D L A P D p.500
. . . . . . g.26030
ACCACCTACCTGGTCCAGGTGCAGGCACTGACGCAGGAGGGCCAGGGGGCCGGCAGCAAG c.1560
T T Y L V Q V Q A L T Q E G Q G A G S K p.520
. . | 08 . . . . g.26558
GTGCACGAATTCCAGACGCTGT | CCCCGGAGGGATCTGGCAACTTGGCGGTGATTGGCGGC c.1620
V H E F Q T L S | P E G S G N L A V I G G p.540
. . . . . . g.26618
GTGGCTGTCGGTGTGGTCCTGCTTCTGGTGCTGGCAGGAGTTGGCTTCTTTATCCACCGC c.1680
V A V G V V L L L V L A G V G F F I H R p.560
| 09 . . . . . | 10 g.27483
AG | GAGGAAGAACCAGCGTGCCCGCCAGTCCCCGGAGGACGTTTACTTCTCCAAGTCAG | AA c.1740
R | R K N Q R A R Q S P E D V Y F S K S E | p.580
. . . . . . g.27543
CAACTGAAGCCCCTGAAGACATACGTGGACCCCCACACATATGAGGACCCCAACCAGGCT c.1800
Q L K P L K T Y V D P H T Y E D P N Q A p.600
. . . . . . g.27603
GTGTTGAAGTTCACTACCGAGATCCATCCATCCTGTGTCACTCGGCAGAAGGTGATCGGA c.1860
V L K F T T E I H P S C V T R Q K V I G p.620
| 11 . . . . . . g.27775
GCAG | GAGAGTTTGGGGAGGTGTACAAGGGCATGCTGAAGACATCCTCGGGGAAGAAGGAG c.1920
A G | E F G E V Y K G M L K T S S G K K E p.640
. . . . . . g.27835
GTGCCGGTGGCCATCAAGACGCTGAAAGCCGGCTACACAGAGAAGCAGCGAGTGGACTTC c.1980
V P V A I K T L K A G Y T E K Q R V D F p.660
. . . . . . g.27895
CTCGGCGAGGCCGGCATCATGGGCCAGTTCAGCCACCACAACATCATCCGCCTAGAGGGC c.2040
L G E A G I M G Q F S H H N I I R L E G p.680
. | 12 . . . . . g.28695
GTCATCTCCAAAT | ACAAGCCCATGATGATCATCACTGAGTACATGGAGAATGGGGCCCTG c.2100
V I S K Y | K P M M I I T E Y M E N G A L p.700
. | 13 . . . . . g.28859
GACAAGTTCCTTCGG | GAGAAGGATGGCGAGTTCAGCGTGCTGCAGCTGGTGGGCATGCTG c.2160
D K F L R | E K D G E F S V L Q L V G M L p.720
. . . . . . g.28919
CGGGGCATCGCAGCTGGCATGAAGTACCTGGCCAACATGAACTATGTGCACCGTGACCTG c.2220
R G I A A G M K Y L A N M N Y V H R D L p.740
. . . . . . g.28979
GCTGCCCGCAACATCCTCGTCAACAGCAACCTGGTCTGCAAGGTGTCTGACTTTGGCCTG c.2280
A A R N I L V N S N L V C K V S D F G L p.760
. . . . | 14 . . g.29232
TCCCGCGTGCTGGAGGACGACCCCGAGGCCACCTACACCACCAGT | GGCGGCAAGATCCCC c.2340
S R V L E D D P E A T Y T T S | G G K I P p.780
. . . . . . g.29292
ATCCGCTGGACCGCCCCGGAGGCCATTTCCTACCGGAAGTTCACCTCTGCCAGCGACGTG c.2400
I R W T A P E A I S Y R K F T S A S D V p.800
. . . . . . g.29352
TGGAGCTTTGGCATTGTCATGTGGGAGGTGATGACCTATGGCGAGCGGCCCTACTGGGAG c.2460
W S F G I V M W E V M T Y G E R P Y W E p.820
. | 15 . . . . . g.30713
TTGTCCAACCACGAG | GTGATGAAAGCCATCAATGATGGCTTCCGGCTCCCCACACCCATG c.2520
L S N H E | V M K A I N D G F R L P T P M p.840
. . . . . . g.30773
GACTGCCCCTCCGCCATCTACCAGCTCATGATGCAGTGCTGGCAGCAGGAGCGTGCCCGC c.2580
D C P S A I Y Q L M M Q C W Q Q E R A R p.860
. . . . . . g.30833
CGCCCCAAGTTCGCTGACATCGTCAGCATCCTGGACAAGCTCATTCGTGCCCCTGACTCC c.2640
R P K F A D I V S I L D K L I R A P D S p.880
. . | 16 . . . g.31529
CTCAAGACCCTGGCTGACTTTGACCCCCG | CGTGTCTATCCGGCTCCCCAGCACGAGCGGC c.2700
L K T L A D F D P R | V S I R L P S T S G p.900
. . . . . . g.31589
TCGGAGGGGGTGCCCTTCCGCACGGTGTCCGAGTGGCTGGAGTCCATCAAGATGCAGCAG c.2760
S E G V P F R T V S E W L E S I K M Q Q p.920
. . . . . . g.31649
TATACGGAGCACTTCATGGCGGCCGGCTACACTGCCATCGAGAAGGTGGTGCAGATGACC c.2820
Y T E H F M A A G Y T A I E K V V Q M T p.940
| 17 . . . . . . g.35822
AACGA | CGACATCAAGAGGATTGGGGTGCGGCTGCCCGGCCACCAGAAGCGCATCGCCTAC c.2880
N D | D I K R I G V R L P G H Q K R I A Y p.960
. . . . . g.35873
AGCCTGCTGGGACTCAAGGACCAGGTGAACACTGTGGGGATCCCCATCTGA c.2931
S L L G L K D Q V N T V G I P I X p.976
. . . . . . g.35933
gcctcgacagggcctggagccccatcggccaagaatacttgaagaaacagagtggcctcc c.*60
. . . . . . g.35993
ctgctgtgccatgctgggccactggggactttatttatttctagttctttcctccccctg c.*120
. . . . . . g.36053
caacttccgctgaggggtctcggatgacaccctggcctgaactgaggagatgaccaggga c.*180
. . . . . . g.36113
tgctgggctgggccctctttccctgcgagacgcacacagctgagcacttagcaggcaccg c.*240
. . . . . . g.36173
ccacgtcccagcatccctggagcaggagccccgccacagccttcggacagacatatggga c.*300
. . . . . . g.36233
tattcccaagccgaccttccctccgccttctcccacatgaggccatctcaggagatggag c.*360
. . . . . . g.36293
ggcttggcccagcgccaagtaaacagggtacctcaagccccatttcctcacactaagagg c.*420
. . . . . . g.36353
gcagactgtgaacttgactgggtgagacccaaagcggtccctgtccctctagtgccttct c.*480
. . . . . . g.36413
ttagaccctcgggccccatcctcatccctgactggccaaacccttgctttcctgggcctt c.*540
. . . . . . g.36473
tgcaagatgcttggttgtgttgaggtttttaaatatatattttgtactttgtggagagaa c.*600
. . . . . . g.36533
tgtgtgtgtgtggcagggggccccgccagggctggggacagagggtgtcaaacattcgtg c.*660
. . . . . . g.36593
agctggggactcagggaccggtgctgcaggagtgtcctgcccatgccccagtcggcccca c.*720
. . . . . . g.36653
tctctcatccttttggataagtttctattctgtcagtgttaaagattttgttttgttgga c.*780
. . . . . . g.36713
catttttttcgaatcttaatttattattttttttatatttattgttagaaaatgacttat c.*840
. . . g.36751
ttctgctctggaataaagttgcagatgattcaaaccga c.*878
(downstream sequence)
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