(used for variant description)
(last modified January 3, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_147127.4 in the EVC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015821.1, covering EVC2 transcript NM_147127.4.
(upstream sequence)
. . . . . g.6035
gctccagcgactcggcggcacccgccgctttgaggtagcgggtcccgacaggcg c.-1
. . . . . . g.6095
ATGGACCCCTCGGGCTCCCGGGGGCGCCCCACGTGGGTGCTGGCCGGGGGTCTCCTGGCA c.60
M D P S G S R G R P T W V L A G G L L A p.20
. . . . . . g.6155
GTGGCCCTGGCGCTGGGGGGCCGAGGCTGTCTCGGCGCCAGCTCACGTCCCCGCTGGCGC c.120
V A L A L G G R G C L G A S S R P R W R p.40
. . . . . . g.6215
CCCCTCGGCGCGCAGCCACCCCGGGATCCCCAGGTGGCTCCTAGGTCTGGGCCCGGCCTG c.180
P L G A Q P P R D P Q V A P R S G P G L p.60
. . . . | 02 . g.16913
AGGATCCCTCCGGGGCGGAGCGGGGCGGGGCCCGAGAGCAGCACGCAG | GACTTGCCCTGT c.240
R I P P G R S G A G P E S S T Q | D L P C p.80
. . . . | 03 . . g.20064
ATGATTTGGCCCAAAGTGGAATGCTGTCACTTTAAGACTGCAG | TGGAAGCACCACTTGGA c.300
M I W P K V E C C H F K T A V | E A P L G p.100
. . . . . . g.20124
ATGAAATTGGACAAGAAAATGGAAGTCTTCATCCCACTCTCAACTTCTGCAGCCTCTAGT c.360
M K L D K K M E V F I P L S T S A A S S p.120
. . . . . . g.20184
GGGCCATGGGCTCATTCCTTATTTGCTTTTATACCCTCCTGGCCTAAGAAGAACTTATTT c.420
G P W A H S L F A F I P S W P K K N L F p.140
. . . | 04 . . . g.23245
AAAAGAGAGTCTCCTATAACACACCGCCTG | TATGGGGACATTTCAAGAGAAGTTCAAGGG c.480
K R E S P I T H R L | Y G D I S R E V Q G p.160
. . . | 05 . . g.25226
ACTTCTGAAAATGGAGTAATTTTTCAGAAATGTGCACTG | GTGTCTGGGTCGAGTGAAGCA c.540
T S E N G V I F Q K C A L | V S G S S E A p.180
. . . . . . g.25286
CAGACAGCCCGCATATGGCTGCTTGTTAACAACACCAAGACAACCTCGTCAGCCAACCTC c.600
Q T A R I W L L V N N T K T T S S A N L p.200
. . . . . . g.25346
TCGGAGCTGCTCTTGCTGGACAGCATTGCTGGTCTCACCATTTGGGACTCTGTGGGAAAC c.660
S E L L L L D S I A G L T I W D S V G N p.220
. . . . | 06 . . g.29083
AGGACCTCGGAAGGATTCCAGGCTTTTAGCAAGAAGTTTCTGCAAG | TGGGAGATGCCTTT c.720
R T S E G F Q A F S K K F L Q V | G D A F p.240
. . . . . . g.29143
GCTGTCAGCTACGCAGCCACGCTCCAGGCTGGAGACCTCGGGAACGGGGAGAGCCTCAAG c.780
A V S Y A A T L Q A G D L G N G E S L K p.260
. . . | 07 . . . g.33259
CTTCCTGCCCAACTCACCTTTCAGAGCTCGTCACGG | AACAGAACACAGCTGAAAGTGCTT c.840
L P A Q L T F Q S S S R | N R T Q L K V L p.280
. . . | 08 . . . g.48929
TTTTCCATAACAGCAGAAGAAAACGTAACG | GTTCTGCCGCACCACGGCCTCCACGCAGCA c.900
F S I T A E E N V T | V L P H H G L H A A p.300
. . . . . . g.48989
GGGTTCTTCATTGCCTTCCTCCTCTCCCTTGTGCTGACCTGGGCTGCCCTCTTCCTCATG c.960
G F F I A F L L S L V L T W A A L F L M p.320
. . . . | 09 . . g.51317
GTTCGCTATCAGTGTCTGAAGGGAAACATGCTCACCAGACATCGG | GTTTGGCAGTATGAG c.1020
V R Y Q C L K G N M L T R H R | V W Q Y E p.340
. . . . . . g.51377
AGCAAGCTGGAACCCTTGCCGTTCACCTCAGCTGATGGCGTGAATGAGGACCTTTCCCTT c.1080
S K L E P L P F T S A D G V N E D L S L p.360
. . . . . . g.51437
AACGACCAAATGATAGACATTCTGTCTTCCGAGGACCCTGGGAGCATGCTTCAAGCCTTA c.1140
N D Q M I D I L S S E D P G S M L Q A L p.380
| 10 . . . . . . g.73765
GAAGA | GTTGGAGATTGCAACCCTGAATCGGGCAGATGCAGATCTGGAGGCTTGTCGAACA c.1200
E E | L E I A T L N R A D A D L E A C R T p.400
. . . . . . g.73825
CAAATCAGCAAGGATATCATTGCCCTTCTGCTGAAAAATCTCACCAGCAGTGGCCACCTC c.1260
Q I S K D I I A L L L K N L T S S G H L p.420
. . . . . . g.73885
TCACCCCAAGTAGAGAGAAAAATGAGTGCTGTTTTCAAAAAGCAGTTTCTATTGCTGGAA c.1320
S P Q V E R K M S A V F K K Q F L L L E p.440
. . . . . . g.73945
AATGAAATACAAGAGGAGTACGATCGGAAGATGGTGGCATTGACAGCTGAATGTGACCTG c.1380
N E I Q E E Y D R K M V A L T A E C D L p.460
. . . . . . g.74005
GAAACAAGAAAGAAGATGGAAAACCAGTACCAGAGAGAGATGATGGCAATGGAGGAAGCA c.1440
E T R K K M E N Q Y Q R E M M A M E E A p.480
. . . | 11 . . . g.82546
GAAGAGTTGCTGAAACGTGCTGGTGAGAGG | TCTGCTGTAGAGTGCAGCAACCTTCTGCGG c.1500
E E L L K R A G E R | S A V E C S N L L R p.500
. . . . . . g.82606
ACCCTCCATGGCCTGGAACAGGAGCACTTGAGGAAGTCTCTCGCTTTGCAACAAGAAGAA c.1560
T L H G L E Q E H L R K S L A L Q Q E E p.520
. . . . . . g.82666
GACTTTGCCAAAGCTCACAGACAGCTGGCTGTTTTCCAGAGAAATGAACTGCACAGTATC c.1620
D F A K A H R Q L A V F Q R N E L H S I p.540
. . . . . . g.82726
TTTTTTACCCAGATAAAAAGTGCTATTTTCAAAGGGGAATTGAAACCAGAGGCAGCTAAA c.1680
F F T Q I K S A I F K G E L K P E A A K p.560
. . . | 12 . . . g.85844
ATGCTGCTGCAAAATTATTCTAAAATACAG | GAGAATGTAGAAGAGTTAATGGACTTTTTC c.1740
M L L Q N Y S K I Q | E N V E E L M D F F p.580
. . . . . . g.85904
CAGGCTAGTAAGAGGTATCATCTAAGTAAAAGATTTGGCCACAGGGAATATCTGGTCCAG c.1800
Q A S K R Y H L S K R F G H R E Y L V Q p.600
. . . . . . g.85964
AACCTCCAGTCATCAGAGACCCGTGTGCAGGGCCTTCTGAGCACCGCTGCAGCCCAGCTG c.1860
N L Q S S E T R V Q G L L S T A A A Q L p.620
. . | 13 . . . . g.88674
ACTCACCTCATTCAGAAGCACGAGAG | AGCAGGGTACCTGGATGAAGACCAAATGGAAATG c.1920
T H L I Q K H E R | A G Y L D E D Q M E M p.640
. . . . . . g.88734
CTATTGGAGCGGGCTCAGACAGAAGTCTTTTCAATCAAGCAGAAGTTGGACAATGACTTA c.1980
L L E R A Q T E V F S I K Q K L D N D L p.660
. . . . . . g.88794
AAGCAGGAAAAGAAAAAGCTCCACCAAAAATTAATAACTAAGAGAAGACGAGAGTTGCTA c.2040
K Q E K K K L H Q K L I T K R R R E L L p.680
| 14 . . . . . . g.91611
CAAAAG | CACAGGGAGCAGCGTAGGGAGCAGGCGTCCGTCGGCGAGGCCTTCCGAACGGTT c.2100
Q K | H R E Q R R E Q A S V G E A F R T V p.700
. . . . . . g.91671
GAGGATGCCGGCCAGTACCTGCACCAGAAGAGGAGCCTGATGGAGGAGCACGGTGCCACC c.2160
E D A G Q Y L H Q K R S L M E E H G A T p.720
. . . . . . g.91731
CTGGAGGAGCTGCAGGAGCGTCTGGACCAGGCCGCCCTGGACGATCTCAGGACCCTGACC c.2220
L E E L Q E R L D Q A A L D D L R T L T p.740
. . . . . . g.91791
CTTTCGCTGTTTGAAAAGGCCACCGACGAGCTGCGGCGCCTGCAGAACTCAGCCATGACC c.2280
L S L F E K A T D E L R R L Q N S A M T p.760
. . . . . . g.91851
CAGGAGCTGCTCAAGCGTGGGGTGCCCTGGCTCTTCCTGCAGCAGATCCTGGAGGAGCAC c.2340
Q E L L K R G V P W L F L Q Q I L E E H p.780
. . . . . . g.91911
GGCAAGGAGATGGCTGCACGGGCCGAGCAGCTGGAGGGGGAGGAGAGGGACAGGGACCAG c.2400
G K E M A A R A E Q L E G E E R D R D Q p.800
. . . . . . g.91971
GAGGGTGTCCAGAGCGTGAGGCAGAGACTGAAGGATGACGCTCCTGAGGCCGTGACAGAG c.2460
E G V Q S V R Q R L K D D A P E A V T E p.820
. . . . | 15 . . g.95885
GAGCAGGCAGAGCTGCGACGCTGGGAGCACCTGATCTTCAT | GAAGCTCTGCTCCTCAGTC c.2520
E Q A E L R R W E H L I F M | K L C S S V p.840
. . . . . . g.95945
TTCTCCCTGTCTGAAGAGGAGCTGCTCAGGATGAGGCAGGAGGTCCATGGCTGCTTTGCT c.2580
F S L S E E E L L R M R Q E V H G C F A p.860
. . . . . . g.96005
CAGATGGACAGGAGCTTGGCCCTCCCCAAGATCCGGGCCCGAGTTCTGCTGCAGCAATTT c.2640
Q M D R S L A L P K I R A R V L L Q Q F p.880
. . . . . . g.96065
CAGACTGCGTGGCGAGAAGCAGAGTTCGTGAAGCTGGACCAGGCCGTGGCTGCCCCTGAG c.2700
Q T A W R E A E F V K L D Q A V A A P E p.900
| 16 . . . . . . g.99058
CTGCAG | CAACAGTCCAAGGTGAGAAAGTCACGGTCCAAGAGTAAAAGCAAGGGAGAGCTT c.2760
L Q | Q Q S K V R K S R S K S K S K G E L p.920
. . . . . . g.99118
CTGAAGAAGTGCATCGAAGACAAAATTCACCTCTGTGAGGAACAGGCCTCTGAAGACCTG c.2820
L K K C I E D K I H L C E E Q A S E D L p.940
| 17 . . . . . g.129749
GTGGAAAAG | GTTCGAGGTGAATTGCTGCGGGAGAGAGTGCAGCGGATGGAGGCACAGGAG c.2880
V E K | V R G E L L R E R V Q R M E A Q E p.960
. . . . . . g.129809
GGAGGCTTTGCACAGTCGCTTGTTGCTCTGCAGTTCCAGAAGGCGTCCCGGGTGACCGAG c.2940
G G F A Q S L V A L Q F Q K A S R V T E p.980
. . . . . . g.129869
ACTCTGTCGGCCTACACCGCCCTCCTCAGCATCCAGGACTTGCTCCTGGAAGAGCTGAGT c.3000
T L S A Y T A L L S I Q D L L L E E L S p.1000
. . . . . | 18. g.138097
GCATCTGAGATGCTGACCAAGTCGGCCTGCACACAGATCCTGGAGTCGCACAGCCGG | GAG c.3060
A S E M L T K S A C T Q I L E S H S R | E p.1020
. . . . . . g.138157
CTCCAGGAGTTGGAGAGGAAGCTGGAGGACCAGCTGGTGCAGCAGGAGGCAGCCCAGCAG c.3120
L Q E L E R K L E D Q L V Q Q E A A Q Q p.1040
. . . . . . g.138217
CAGCAGGCCCTGGCGAGCTGGCAGCAGTGGGTGGCCGATGGGCCCGGGATTCTGAACGAA c.3180
Q Q A L A S W Q Q W V A D G P G I L N E p.1060
. . . . . . g.138277
CCTGGGGAGGTGGATTCTGAAAGGCAGGTCTCTACTGTCCTGCACCAAGCCCTGAGCAAG c.3240
P G E V D S E R Q V S T V L H Q A L S K p.1080
. . . | 19 . . . g.139804
AGCCAGACATTACTGGAGCAACATCAGCAGTG | TTTGAGAGAGGAACAACAGAACAGTGTC c.3300
S Q T L L E Q H Q Q C | L R E E Q Q N S V p.1100
. . . . . . g.139864
GTGCTAGAAGACTTGTTGGAAAACATGGAGGCAGACACCTTTGCAACCCTGTGCAGCCAG c.3360
V L E D L L E N M E A D T F A T L C S Q p.1120
| 20 . . . . . . g.145968
| GAGCTGAGACTGGCATCGTACCTGGCGAGGATGGCCATGGTGCCCGGGGCCACGCTTCGC c.3420
| E L R L A S Y L A R M A M V P G A T L R p.1140
. . . . . . g.146028
CGGCTCCTGAGTGTGGTACTGCCCACAGCCTCACAGCCTCAGCTGCTGGCCCTGCTGGAT c.3480
R L L S V V L P T A S Q P Q L L A L L D p.1160
. . . . . . g.146088
TCGGCCACCGAGAGACATGTGGACCACGCAGCTGAGAGCGATGGCGGAGCGGAGCAGGCC c.3540
S A T E R H V D H A A E S D G G A E Q A p.1180
. | 21. . . . . g.149232
GACGTGGGCAGGCGGAG | GAAACACCAGAGCTGGTGGCAAGCCTTAGATGGCAAACTGCGA c.3600
D V G R R R | K H Q S W W Q A L D G K L R p.1200
. . . . . | 22 g.151434
GGAGATCTGATAAGCAGAGGATTAGAAAAGATGCTGTGGGCCCGCAAGAGAAAGCAGAG | C c.3660
G D L I S R G L E K M L W A R K R K Q S | p.1220
. . . . . . g.151494
ATATTAAAGAAGACATGTCTCCCTCTCAGAGAGAGGATGATATTCTCTGGAAAAGGAAGT c.3720
I L K K T C L P L R E R M I F S G K G S p.1240
. . . . . . g.151554
TGGCCACACCTGTCACTGGAGCCCATTGGCGAACTGGCCCCTGTACCCATTGTAGGGGCA c.3780
W P H L S L E P I G E L A P V P I V G A p.1260
. . . . . . g.151614
GAAACCATTGATCTATTAAACACAGGAGAGAAGCTCTTTATATTCAGAAATCCAAAGGAG c.3840
E T I D L L N T G E K L F I F R N P K E p.1280
. . . . . . g.151674
CCAGAGATCTCACTGCACGTTCCTCCCAGGAAAAAGAAGAACTTTTTGAATGCCAAAAAG c.3900
P E I S L H V P P R K K K N F L N A K K p.1300
. . g.151701
GCCATGAGGGCCTTGGGCATGGACTAG c.3927
A M R A L G M D X p.1308
. . . . . . g.151761
cccaagggaaagacctgcgggagcatctgaagagagaagggatgattttctcctgcccgc c.*60
. . . . . . g.151821
cggtgtttgtgtgtttataatgcacaactcgcaaatataaattgcacatgcagaaggcac c.*120
. . . . . . g.151881
agaccccgtagcgcatgccaacttgcagggactcggtttaatcttgtctcatgaatttcc c.*180
. . . . . . g.151941
agatggcccactctcttccatatcacaaggacataaacactccttctttcagccccacct c.*240
. . . . . . g.152001
ccccagggccctggaggagacccccaccctgcaatccacaccccatcctctgctgcagaa c.*300
. . . . . . g.152061
gctatggtctgtgtggtgacagccagattctctactcttatgttttgtatttgttacata c.*360
. . . . . . g.152121
ttctatttttataaagggaattttaaaaaataaatgtgttttgcacaaagctgtttatta c.*420
g.152130
caaaaccca c.*429
(downstream sequence)
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