Canonical Allele Identifier: CA391361267
Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1460694
ClinVar RCV Id: RCV001963381
dbSNP Id: rs779938295

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27926207T>C , CM000677.2:g.27926207T>C GRCh38
NC_000015.9:g.28171353T>C , CM000677.1:g.28171353T>C GRCh37
NC_000015.8:g.25844948T>C NCBI36
NG_009846.1:g.178106A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.1999A>G MANE Select ENSP00000346659.3:p.Ile667Val
ENST00000353809.9:c.1927A>G ENSP00000261276.8:p.Ile643Val
ENST00000354638.7:c.1999A>G ENSP00000346659.3:p.Ile667Val
NM_000275.2:c.1999A>G NP_000266.2:p.Ile667Val
NM_001300984.1:c.1927A>G NP_001287913.1:p.Ile643Val
XM_011521639.1:c.2023A>G XP_011519941.1:p.Ile675Val
XM_011521640.1:c.1999A>G XP_011519942.1:p.Ile667Val
XM_011521641.1:c.2023A>G XP_011519943.1:p.Ile675Val
XM_011521642.1:c.1951A>G XP_011519944.1:p.Ile651Val
XM_011521643.1:c.1951A>G XP_011519945.1:p.Ile651Val
XM_011521644.1:c.1885A>G XP_011519946.1:p.Ile629Val
XM_011521645.1:c.2023A>G XP_011519947.1:p.Ile675Val
XM_011521640.2:c.1999A>G XP_011519942.1:p.Ile667Val
XM_017022255.1:c.2023A>G XP_016877744.1:p.Ile675Val
XM_017022256.1:c.2023A>G XP_016877745.1:p.Ile675Val
XM_017022257.1:c.1951A>G XP_016877746.1:p.Ile651Val
XM_017022258.1:c.2023A>G XP_016877747.1:p.Ile675Val
XM_017022259.1:c.1951A>G XP_016877748.1:p.Ile651Val
XM_017022260.1:c.1885A>G XP_016877749.1:p.Ile629Val
XM_017022261.1:c.1828A>G XP_016877750.1:p.Ile610Val
XM_017022262.1:c.2023A>G XP_016877751.1:p.Ile675Val
XM_017022263.1:c.2023A>G XP_016877752.1:p.Ile675Val
XM_017022264.1:c.2023A>G XP_016877753.1:p.Ile675Val
NM_000275.3:c.1999A>G MANE Select NP_000266.2:p.Ile667Val
NM_001300984.2:c.1927A>G NP_001287913.1:p.Ile643Val