Canonical Allele Identifier: CA391361469
Gene: OCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27926249T>G , CM000677.2:g.27926249T>G GRCh38
NC_000015.9:g.28171395T>G , CM000677.1:g.28171395T>G GRCh37
NC_000015.8:g.25844990T>G NCBI36
NG_009846.1:g.178064A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.1957A>C MANE Select ENSP00000346659.3:p.Ile653Leu
ENST00000353809.9:c.1885A>C ENSP00000261276.8:p.Ile629Leu
ENST00000354638.7:c.1957A>C ENSP00000346659.3:p.Ile653Leu
NM_000275.2:c.1957A>C NP_000266.2:p.Ile653Leu
NM_001300984.1:c.1885A>C NP_001287913.1:p.Ile629Leu
XM_011521639.1:c.1981A>C XP_011519941.1:p.Ile661Leu
XM_011521640.1:c.1957A>C XP_011519942.1:p.Ile653Leu
XM_011521641.1:c.1981A>C XP_011519943.1:p.Ile661Leu
XM_011521642.1:c.1909A>C XP_011519944.1:p.Ile637Leu
XM_011521643.1:c.1909A>C XP_011519945.1:p.Ile637Leu
XM_011521644.1:c.1843A>C XP_011519946.1:p.Ile615Leu
XM_011521645.1:c.1981A>C XP_011519947.1:p.Ile661Leu
XM_011521640.2:c.1957A>C XP_011519942.1:p.Ile653Leu
XM_017022255.1:c.1981A>C XP_016877744.1:p.Ile661Leu
XM_017022256.1:c.1981A>C XP_016877745.1:p.Ile661Leu
XM_017022257.1:c.1909A>C XP_016877746.1:p.Ile637Leu
XM_017022258.1:c.1981A>C XP_016877747.1:p.Ile661Leu
XM_017022259.1:c.1909A>C XP_016877748.1:p.Ile637Leu
XM_017022260.1:c.1843A>C XP_016877749.1:p.Ile615Leu
XM_017022261.1:c.1786A>C XP_016877750.1:p.Ile596Leu
XM_017022262.1:c.1981A>C XP_016877751.1:p.Ile661Leu
XM_017022263.1:c.1981A>C XP_016877752.1:p.Ile661Leu
XM_017022264.1:c.1981A>C XP_016877753.1:p.Ile661Leu
NM_000275.3:c.1957A>C MANE Select NP_000266.2:p.Ile653Leu
NM_001300984.2:c.1885A>C NP_001287913.1:p.Ile629Leu