(used for variant description)
(last modified July 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000275.2 in the OCA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009846.1, covering OCA2 transcript NM_000275.2.
(upstream sequence)
. . . . . g.5050
cttacttcgaaggctgtgctccgctcaccatccagagcggaggtgcggac c.-61
. . . . | 02 . g.22438
cttaaactcactcctggagaaagatctgcaagtgcgcag | agagaagactggcagtggagc c.-1
. . . . . . g.22498
ATGCATCTGGAGGGCAGAGACGGCAGGCGGTACCCCGGCGCGCCGGCGGTGGAGCTCCTG c.60
M H L E G R D G R R Y P G A P A V E L L p.20
. . . . . . g.22558
CAGACGTCCGTGCCCAGCGGACTCGCTGAACTTGTGGCCGGCAAGCGCAGGCTTCCTCGG c.120
Q T S V P S G L A E L V A G K R R L P R p.40
. . . . . . g.22618
GGAGCCGGTGGAGCTGACCCCTCGCACTCCTGCCCCAGGGGGGCTGCCGGGCAGAGCTCT c.180
G A G G A D P S H S C P R G A A G Q S S p.60
. . . . | 03. . g.72162
TGGGCTCCTGCAGGCCAGGAGTTTGCTTCATTCCTCACAAAAGGGAG | GTCTCACTCTTCT c.240
W A P A G Q E F A S F L T K G R | S H S S p.80
. . . . . . g.72222
TTGCCCCAGATGTCCAGCTCCAGGTCTAAAGATTCCTGCTTTACAGAAAACACTCCTTTG c.300
L P Q M S S S R S K D S C F T E N T P L p.100
. . | 04 . . . . g.76287
CTGAGGAATTCCTTACAGGAGAAAGG | GTCACGGTGCATACCTGTTTACCATCCAGAGTTC c.360
L R N S L Q E K G | S R C I P V Y H P E F p.120
. . . . . . g.76347
ATCACTGCTGAAGAGTCTTGGGAAGACAGCTCTGCTGACTGGGAGCGAAGATACCTGCTA c.420
I T A E E S W E D S S A D W E R R Y L L p.140
. . . . . . g.76407
AGCAGGGAGGTGTCTGGTCTGTCTGCATCTGCCTCCTCCGAGAAGGGAGACCTTCTGGAC c.480
S R E V S G L S A S A S S E K G D L L D p.160
. . . | 05 . . . g.79435
AGCCCGCACATCCGACTCCGTCTTTCCAAGCTGAG | GCGCTGTGTGCAGTGGCTGAAAGTC c.540
S P H I R L R L S K L R | R C V Q W L K V p.180
. . . | 06 . . . g.81766
ATGGGCCTGTTTGCCTTTGTGGTGCTGTGTTCT | ATTTTGTTCAGCCTATATCCGGATCAA c.600
M G L F A F V V L C S | I L F S L Y P D Q p.200
. . . . | 07 . . g.85769
GGAAAGCTCTGGCAGCTGTTGGCCTTATCACCGCTGGAGAACTACT | CCGTGAACCTTAGC c.660
G K L W Q L L A L S P L E N Y S | V N L S p.220
. . . . . . g.85829
AGCCACGTGGACTCCACGCTGCTGCAGGTGGACCTGGCAGGGGCCCTAGTGGCCAGTGGG c.720
S H V D S T L L Q V D L A G A L V A S G p.240
. . . . . . g.85889
CCGAGTCGTCCTGGGAGGGAAGAGCACATCGTGGTGGAGCTGACCCAGGCTGACGCTTTG c.780
P S R P G R E E H I V V E L T Q A D A L p.260
. . | 08. . . . g.88159
GGCTCCAGGTGGCGGCGGCCACAGCAG | GTCACTCACAACTGGACGGTGTATTTAAATCCG c.840
G S R W R R P Q Q | V T H N W T V Y L N P p.280
. . . . . | 09 . g.89393
AGGAGAAGCGAGCACTCAGTGATGAGCAGGACCTTTGAGGTACTGACCAG | AGAGACGGTG c.900
R R S E H S V M S R T F E V L T R | E T V p.300
. . . . . . g.89453
TCCATCAGCATCCGGGCCTCCCTGCAGCAGACCCAGGCTGTCCCTCTTTTGATGGCTCAT c.960
S I S I R A S L Q Q T Q A V P L L M A H p.320
. . . . . . g.89513
CAGTACCTCCGCGGAAGTGTAGAAACCCAGGTGACCATCGCGACGGCCATCCTCGCGGGC c.1020
Q Y L R G S V E T Q V T I A T A I L A G p.340
. . | 10 . . . . g.113701
GTCTACGCGCTGATCATATTTGAG | ATCGTGCACAGAACTCTGGCGGCCATGCTGGGTTCC c.1080
V Y A L I I F E | I V H R T L A A M L G S p.360
. . . | 11 . . . g.114670
CTTGCAGCACTGGCAGCACTGGCTGTGATTGGCGAT | AGACCCAGCCTGACCCATGTGGTG c.1140
L A A L A A L A V I G D | R P S L T H V V p.380
. . . . | 12 . . g.117687
GAGTGGATTGATTTTGAGACGCTGGCCCTGCTGTTTGGCATG | ATGATCTTAGTAGCCATA c.1200
E W I D F E T L A L L F G M | M I L V A I p.400
. . . | 13 . . g.119145
TTTTCAGAAACGGGATTTTTCGATTATTGTGCTGTAAAG | GCATACCGGCTCTCCCGGGGA c.1260
F S E T G F F D Y C A V K | A Y R L S R G p.420
. . . . . . g.119205
CGGGTGTGGGCCATGATCATCATGCTCTGTCTCATCGCGGCCGTCCTCTCTGCCTTCTTG c.1320
R V W A M I I M L C L I A A V L S A F L p.440
. . . . | 14 . . g.120845
GACAACGTCACCACCATGCTCCTCTTCACGCCTGTGACCATAAG | GTTGTGTGAGGTGCTC c.1380
D N V T T M L L F T P V T I R | L C E V L p.460
. . . . . . g.120905
AACCTTGATCCAAGACAAGTCCTGATTGCAGAAGTGATCTTCACAAACATTGGAGGAGCT c.1440
N L D P R Q V L I A E V I F T N I G G A p.480
. . . . . . g.120965
GCCACTGCCATCGGGGACCCTCCAAATGTCATTATTGTTTCCAACCAAGAGCTGAGGAAG c.1500
A T A I G D P P N V I I V S N Q E L R K p.500
| 15 . . . . . . g.137547
ATG | GGCCTGGACTTTGCCGGATTCACTGCACACATGTTCATTGGGATTTGCCTTGTTCTC c.1560
M | G L D F A G F T A H M F I G I C L V L p.520
. . . . . . g.137607
CTGGTCTGCTTTCCGCTCCTCAGACTCCTTTACTGGAACAGAAAGCTTTATAACAAGGAA c.1620
L V C F P L L R L L Y W N R K L Y N K E p.540
. | 16 . . . . . g.146621
CCCAGTGAGATTGTTG | AACTGAAGCACGAGATTCACGTCTGGCGCCTGACTGCTCAGCGC c.1680
P S E I V E | L K H E I H V W R L T A Q R p.560
. . . . . . g.146681
ATCAGCCCGGCCAGCCGCGAGGAGACAGCTGTGCGCCGCCTGCTGCTGGGGAAGGTGCTG c.1740
I S P A S R E E T A V R R L L L G K V L p.580
. . . . | 17 . . g.149113
GCACTGGAGCACCTGCTCGCCCGGAGGCTGCACACCTTCCACAG | ACAGATCTCACAGGAG c.1800
A L E H L L A R R L H T F H R | Q I S Q E p.600
. . . . | 18 . . g.152438
GACAAAAATTGGGAGACCAATATCCAAGAACTCCAAAAAAAG | CATAGGATATCTGACGGG c.1860
D K N W E T N I Q E L Q K K | H R I S D G p.620
. . . . . . g.152498
ATTCTGCTCGCCAAATGCCTGACAGTGTTGGGATTTGTTATCTTCATGTTTTTCCTCAAT c.1920
I L L A K C L T V L G F V I F M F F L N p.640
. . . | 19 . . . g.178087
TCGTTTGTCCCTGGCATTCATCTTGATCTTG | GATGGATTGCTATTCTGGGTGCCATCTGG c.1980
S F V P G I H L D L G | W I A I L G A I W p.660
. . . . . . g.178147
TTGCTAATTTTAGCTGATATTCATGATTTTGAGATAATTCTACACAGAGTGGAATGGGCA c.2040
L L I L A D I H D F E I I L H R V E W A p.680
. . . | 20 . . g.232411
ACCCTTCTGTTTTTTGCAGCGCTCTTTGTTCTGATGGAG | GCATTGGCACATCTCCACTTA c.2100
T L L F F A A L F V L M E | A L A H L H L p.700
. . . | 21 . . g.233075
ATAGAATATGTTGGAGAACAAACTGCTTTGCTAATAAAG | ATGGTCCCAGAGGAGCAGCGC c.2160
I E Y V G E Q T A L L I K | M V P E E Q R p.720
. . . . . . g.233135
CTCATAGCCGCCATTGTCCTGGTGGTGTGGGTCTCAGCCCTGGCGTCGTCCCTGATTGAC c.2220
L I A A I V L V V W V S A L A S S L I D p.740
. . | 22 . . . . g.252873
AACATCCCGTTCACTGCTACCATG | ATTCCCGTGCTCCTGAACCTGAGCCACGACCCTGAG c.2280
N I P F T A T M | I P V L L N L S H D P E p.760
. . . . . | 23 g.259262
GTTGGCCTGCCCGCACCGCCGCTCATGTATGCCCTGGCCTTCGGTGCTTGCCTGGGAG | GT c.2340
V G L P A P P L M Y A L A F G A C L G G | p.780
. . . . . . g.259322
AACGGGACACTGATTGGCGCGTCGGCAAACGTCGTGTGTGCAGGGATTGCAGAACAGCAT c.2400
N G T L I G A S A N V V C A G I A E Q H p.800
. . . | 24 . . . g.348868
GGATATGGGTTCTCCTTCATGGAATTTTTCAG | GCTGGGCTTCCCAATGATGGTTGTGTCC c.2460
G Y G F S F M E F F R | L G F P M M V V S p.820
. . . . . g.348925
TGCACTGTTGGGATGTGTTATCTCCTTGTGGCTCATGTGGTGGTGGGATGGAATTAA c.2517
C T V G M C Y L L V A H V V V G W N X p.838
. . . . . . g.348985
tagacatccatctattgctcgaagactaaaggaaacttcatccatcacaacccattagtc c.*60
. . . . . . g.349045
ataaaactaccctgaccccactgtttgaagaagaaaaggtgcttaccctggagatgctac c.*120
. . . . . . g.349105
agagacacagtggaatagaccttgacactaacactctaattcaagcgaatgttggaacac c.*180
. . . . . . g.349165
catgacctcctctgtgtgtcctttctccccaaggacaaaatgtagaaagatgtgagataa c.*240
. . . . . . g.349225
cttactcaagattcccctccagaaaaatacgtatgtttaaaaacccttcctgctatacat c.*300
. . . . . . g.349285
aggaaaagacacacatccacctaaaattgactgtactgtttaactgtcaattctcctgag c.*360
. . . . . . g.349345
gctaaacacagtttgtttttcttgtaatcacttttcatgttaaaataatcagcattcaaa c.*420
. . . . . . g.349405
ttgtatgctttctgaatatagactttctgggaaaaggtttactgctcgtaaggaaacatt c.*480
. . . g.349438
ttatgtattaaaataaactgttccttgataaaa c.*513
(downstream sequence)
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