(used for variant description)
(last modified August 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_020442.4 in the VARS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034224.1, covering VARS2 transcript NM_020442.4.
(upstream sequence)
. . . . g.5047
gccagctgctgcgcatgcgccggccggggccccgcccccatgcgccg c.-121
. . . . . . g.5107
cgcggctccagggccacgttccagggtcgggtttggtggattcctcagtccctgccgccg c.-61
. . . . | 02 . . g.5632
cggggcgccctgggatagcggcggggcctcctg | atctcggcccctttccaaacactcctg c.-1
. . . . . . g.5692
ATGCCTCATTTGCCTCTCGCCTCTTTTCGACCACCATTTTGGGGGCTGAGGCACTCACGG c.60
M P H L P L A S F R P P F W G L R H S R p.20
. . . . . . g.5752
GGCCTCCCCAGGTTTCACTCCGTTTCTACACAGTCGGAGCCCCATGGATCTCCCATCTCC c.120
G L P R F H S V S T Q S E P H G S P I S p.40
. . . . . . g.5812
CGGAGGAACCGTGAAGCCAAACAGAAGCGCCTGCGAGAGAAGCAGGCGACTCTGGAGGCT c.180
R R N R E A K Q K R L R E K Q A T L E A p.60
. . | 03 . . . . g.5990
GAGATAGCAGGGGAGAGCAAG | TCACCTGCAGAATCCATTAAGGCCTGGAGGCCTAAGGAG c.240
E I A G E S K | S P A E S I K A W R P K E p.80
. . . . | 04 . . g.6167
TTAGTATTGTATGAAATCCCTACGAAACCCGGTGAAAAGAAAG | ATGTCTCTGGGCCCCTG c.300
L V L Y E I P T K P G E K K D | V S G P L p.100
. . . . . . g.6227
CCTCCTGCATACAGCCCCCGATATGTTGAGGCTGCCTGGTACCCGTGGTGGGTACGAGAG c.360
P P A Y S P R Y V E A A W Y P W W V R E p.120
. . | 05 . . . . g.6577
GGCTTCTTCAAACCAGAATATCAG | GCCCGGCTGCCCCAAGCTACAGGGGAGACCTTTTCC c.420
G F F K P E Y Q | A R L P Q A T G E T F S p.140
. . . . . . g.6637
ATGTGTATCCCACCTCCCAATGTCACTGGCTCCCTGCACATTGGCCACGCACTCACGGTG c.480
M C I P P P N V T G S L H I G H A L T V p.160
. . | 06 . . . . g.6810
GCCATACAGGATGCCCTCGTGCGCTG | GCACCGGATGCGTGGGGATCAAGTGCTGTGGGTC c.540
A I Q D A L V R W | H R M R G D Q V L W V p.180
. . . | 07 . . . g.6974
CCTGGTTCAGATCATGCAGGAATTGCTACACAA | GCTGTGGTGGAGAAACAACTGTGGAAG c.600
P G S D H A G I A T Q | A V V E K Q L W K p.200
. . . . . . g.7034
GAACGGGGAGTGAGGAGACATGAGCTGAGCCGGGAGGCCTTCCTTAGGGAGGTGTGGCAG c.660
E R G V R R H E L S R E A F L R E V W Q p.220
. | 08 . . . . . g.7722
TGGAAGGAGGC | GAAAGGTGGAGAGATCTGTGAGCAGCTGCGAGCTCTGGGTGCCTCCCTG c.720
W K E A | K G G E I C E Q L R A L G A S L p.240
. . . | 09 . . . g.7927
GACTGGGATCGAGAGTGTTTTACCATGGATGTT | GGCTCCTCAGTGGCTGTGACTGAAGCT c.780
D W D R E C F T M D V | G S S V A V T E A p.260
. . . . . . g.7987
TTTGTGCGGCTCTACAAGGCGGGGTTGCTGTACCGGAACCATCAGCTTGTCAACTGGTCA c.840
F V R L Y K A G L L Y R N H Q L V N W S p.280
. . . | 10 . . . g.8517
TGTGCTTTAAGATCAGCCATCTCGGACATTGAG | GTGGAGAACCGGCCCCTGCCTGGCCAC c.900
C A L R S A I S D I E | V E N R P L P G H p.300
. . . . . . g.8577
ACACAGCTTCGACTGCCTGGCTGCCCCACCCCCGTGTCTTTTGGCCTCCTATTTTCTGTT c.960
T Q L R L P G C P T P V S F G L L F S V p.320
. . | 11 . . . . g.9657
GCCTTCCCCGTGGATGGAGAGCCTG | ATGCAGAGGTTGTGGTAGGAACCACAAGGCCAGAG c.1020
A F P V D G E P D | A E V V V G T T R P E p.340
. . . . . | 12 . g.10559
ACGCTGCCTGGAGATGTGGCTGTGGCCGTTCATCCAGACGACTCGCGATACACA | CATCTA c.1080
T L P G D V A V A V H P D D S R Y T | H L p.360
. . . . . . g.10619
CACGGGCGACAGCTTCGTCACCCCTTGATGGGGCAGCCTCTTCCCCTCATCACAGACTAT c.1140
H G R Q L R H P L M G Q P L P L I T D Y p.380
. . | 13 . . . . g.10919
GCTGTTCAGCCACATGTGGGCACGG | GGGCAGTGAAGGTGACTCCAGCTCACAGTCCTGCC c.1200
A V Q P H V G T G | A V K V T P A H S P A p.400
. . . . . . g.10979
GATGCTGAGATGGGGGCCCGACATGGCTTGAGCCCCTTGAATGTCATTGCGGAGGATGGG c.1260
D A E M G A R H G L S P L N V I A E D G p.420
. . . | 14 . . . g.11155
ACCATGACCTCCCTCTGCGGGGACTGGCTGCAG | GGTCTTCACCGGTTTGTGGCCCGGGAA c.1320
T M T S L C G D W L Q | G L H R F V A R E p.440
. . . . . . g.11215
AAGATAATGTCTGTGCTGAGTGAATGGGGCCTGTTCCGGGGCCTCCAGAACCACCCCATG c.1380
K I M S V L S E W G L F R G L Q N H P M p.460
. | 15. . . . . g.11506
GTACTGCCCATCTGCAG | CCGTTCTGGGGATGTGATAGAATACCTGCTGAAGAACCAGTGG c.1440
V L P I C S | R S G D V I E Y L L K N Q W p.480
. . . | 16 . . g.11881
TTTGTCCGCTGCCAGGAAATGGGGGCCCGAGCTGCCAAG | GCTGTGGAGTCGGGGGCCCTG c.1500
F V R C Q E M G A R A A K | A V E S G A L p.500
. . . . . | 17 . g.12029
GAGCTCAGTCCCTCCTTCCACCAGAAGAACTGGCAGCACTGGTTTTCCCATATTGG | GGAC c.1560
E L S P S F H Q K N W Q H W F S H I G | D p.520
. . . . . . g.12089
TGGTGTGTCTCCCGGCAGCTGTGGTGGGGCCATCAGATTCCAGCCTACCTGGTTGTAGAG c.1620
W C V S R Q L W W G H Q I P A Y L V V E p.540
. | 18 . . . . . g.12432
GACCATGCGCAG | GGAGAAGAGGACTGTTGGGTGGTTGGGCGGTCAGAGGCTGAGGCCAGA c.1680
D H A Q | G E E D C W V V G R S E A E A R p.560
. . . . . | 19 . g.12725
GAGGTAGCAGCGGAACTGACAGGGAGGCCAGGGGCAGAGCTGACCCTGGAGAGGG | ATCCT c.1740
E V A A E L T G R P G A E L T L E R D | P p.580
. . . . . . g.12785
GATGTCCTAGACACATGGTTTTCTTCTGCCCTGTTCCCCTTTTCTGCCCTGGGCTGGCCC c.1800
D V L D T W F S S A L F P F S A L G W P p.600
| 20 . . . . . . g.12965
CAAGAG | ACCCCAGACCTTGCTCGTTTCTACCCCCTGTCACTTTTGGAAACGGGCAGCGAC c.1860
Q E | T P D L A R F Y P L S L L E T G S D p.620
. . . . . . g.13025
CTTCTGCTGTTCTGGGTGGGCCGCATGGTCATGTTGGGGACCCAGCTCACAGGGCAGCTG c.1920
L L L F W V G R M V M L G T Q L T G Q L p.640
. | 21 . . . . . g.13293
CCCTTCAGCAAG | GTGCTTCTTCATCCCATGGTTCGGGACAGGCAGGGCCGGAAGATGAGC c.1980
P F S K | V L L H P M V R D R Q G R K M S p.660
. . . . . | 22. g.13504
AAGTCCCTGGGGAATGTGCTGGACCCAAGAGACATCATCAGTGGGGTGGAGATGCAG | GTG c.2040
K S L G N V L D P R D I I S G V E M Q | V p.680
. . . . . . g.13564
CTGCAGGAAAAGCTGAGAAGCGGAAATTTGGACCCTGCAGAGCTGGCCATTGTGGCTGCA c.2100
L Q E K L R S G N L D P A E L A I V A A p.700
| 23 . . . . . . g.13747
GCACAG | AAAAAGGACTTTCCTCACGGGATCCCTGAGTGTGGGACAGATGCCCTGAGATTC c.2160
A Q | K K D F P H G I P E C G T D A L R F p.720
. . | 24 . . . . g.13934
ACACTCTGCTCCCATGGAGTTCAGG | CGGGCGACTTGCACCTGTCAGTCTCTGAGGTCCAG c.2220
T L C S H G V Q A | G D L H L S V S E V Q p.740
. . . . . . g.13994
AGCTGCCGACATTTCTGCAACAAGATCTGGAATGCTCTTCGCTTTATCCTCAATGCTTTA c.2280
S C R H F C N K I W N A L R F I L N A L p.760
. . . | 25 . . . g.14175
GGGGAGAAATTTGTGCCACAGCCTGCTGAGGAG | CTGTCTCCCTCCTCCCCGATGGATGCC c.2340
G E K F V P Q P A E E | L S P S S P M D A p.780
. . . . . . g.14235
TGGATCCTGAGCCGCCTTGCCCTGGCTGCCCAGGAGTGTGAGCGGGGCTTCCTCACCCGA c.2400
W I L S R L A L A A Q E C E R G F L T R p.800
. . . . . . g.14295
GAGCTCTCGCTCGTCACTCATGCCCTGCACCACTTCTGGCTTCACAACCTCTGTGACGTC c.2460
E L S L V T H A L H H F W L H N L C D V p.820
| 26 . . . . . . g.15203
TACCTG | GAGGCTGTGAAGCCCGTGCTGTGGCACTCGCCCCGCCCCCTGGGGCCCCCTCAG c.2520
Y L | E A V K P V L W H S P R P L G P P Q p.840
. . . . . . g.15263
GTCCTGTTCTCCTGCGCTGACCTCGGCCTCCGCCTCCTGGCCCCACTGATGCCCTTCCTG c.2580
V L F S C A D L G L R L L A P L M P F L p.860
. . . . . . g.15323
GCTGAAGAGCTCTGGCAGAGGCTGCCCCCCAGGCCTGGTTGCCCCCCTGCCCCCAGCATC c.2640
A E E L W Q R L P P R P G C P P A P S I p.880
. . . | 27 . . . g.16096
TCGGTTGCCCCCTACCCCAGCGCCTGCAGCTTG | GAGCACTGGCGCCAGCCAGAGCTGGAG c.2700
S V A P Y P S A C S L | E H W R Q P E L E p.900
. . . . . . g.16156
CGGCGCTTCTCCCGGGTCCAAGAGGTCGTGCAGGTGCTAAGGGCTCTCCGAGCCACGTAC c.2760
R R F S R V Q E V V Q V L R A L R A T Y p.920
. . | 28 . . . . g.16374
CAGCTCACCAAAGCCCGGCCCCGAG | TGCTGCTGCAGAGCTCAGAGCCTGGGGACCAGGGC c.2820
Q L T K A R P R V | L L Q S S E P G D Q G p.940
. . . . . . g.16434
CTCTTCGAGGCCTTCTTGGAGCCCCTGGGCACCCTGGGCTACTGTGGGGCTGTGGGCCTG c.2880
L F E A F L E P L G T L G Y C G A V G L p.960
. . . . . . g.16494
TTACCCCCAGGCGCAGCAGCTCCCTCCGGCTGGGCCCAGGCTCCACTCAGTGACACGGCT c.2940
L P P G A A A P S G W A Q A P L S D T A p.980
. . | 29 . . . . g.16714
CAAGTCTACATGGAGCTGCAG | GGCCTGGTGGACCCGCAGATCCAGCTACCTCTGTTAGCC c.3000
Q V Y M E L Q | G L V D P Q I Q L P L L A p.1000
. . . . . . g.16774
GCCCGAAGGTACAAGTTGCAGAAGCAGCTTGACAGCCTCACAGCCAGGACCCCATCAGAA c.3060
A R R Y K L Q K Q L D S L T A R T P S E p.1020
. . . | 30 . . . g.16934
GGGGAGGCAGGGACTCAGAGGCAACAAAAG | CTTTCTTCCCTCCAGCTGGAATTGTCAAAA c.3120
G E A G T Q R Q Q K | L S S L Q L E L S K p.1040
. . . . . . g.16994
CTGGACAAGGCAGCCTCTCACCTCCGGCAGCTGATGGATGAGCCTCCAGCCCCAGGGAGC c.3180
L D K A A S H L R Q L M D E P P A P G S p.1060
. g.17006
CCGGAGCTCTAA c.3192
P E L X p.1063
. . . . . . g.17066
ctcatcatccccatcagttttcctccctctcagacctgtctttgaggacaaacagatttg c.*60
. . . . . . g.17126
tcagctgtcagggtgcagtgggacgtcagagactatgtggtccatcgccttcattgtgta c.*120
. . . . . . g.17186
aatgaggacacagactggcttggtcgcagtgactgtggtgtccttgagatgctcacatta c.*180
. . . . . . g.17246
ctgcccggcctgcctcccacctggaagtctgggaatgaggagattgagataaacttttga c.*240
g.17255
aatcccaaa c.*249
(downstream sequence)
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