Canonical Allele Identifier: CA2166365052
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27926137A= , CM000677.2:g.27926137A= GRCh38
NC_000015.9:g.28171283A= , CM000677.1:g.28171283A= GRCh37
NC_000015.8:g.25844878A= NCBI36
NG_009846.1:g.178176T=

Transcript Alleles

HGVS Amino-acid change
ENST00000354638.8:c.2069T= MANE Select ENSP00000346659.3:p.Val690=
ENST00000353809.9:c.1997T= ENSP00000261276.8:p.Val666=
ENST00000354638.7:c.2069T= ENSP00000346659.3:p.Val690=
NM_000275.2:c.2069T= NP_000266.2:p.Val690=
NM_001300984.1:c.1997T= NP_001287913.1:p.Val666=
XM_011521639.1:c.2093T= XP_011519941.1:p.Val698=
XM_011521640.1:c.2069T= XP_011519942.1:p.Val690=
XM_011521641.1:c.2093T= XP_011519943.1:p.Val698=
XM_011521642.1:c.2021T= XP_011519944.1:p.Val674=
XM_011521643.1:c.2021T= XP_011519945.1:p.Val674=
XM_011521644.1:c.1955T= XP_011519946.1:p.Val652=
XM_011521645.1:c.2093T= XP_011519947.1:p.Val698=
XM_011521640.2:c.2069T= XP_011519942.1:p.Val690=
XM_017022255.1:c.2093T= XP_016877744.1:p.Val698=
XM_017022256.1:c.2093T= XP_016877745.1:p.Val698=
XM_017022257.1:c.2021T= XP_016877746.1:p.Val674=
XM_017022258.1:c.2093T= XP_016877747.1:p.Val698=
XM_017022259.1:c.2021T= XP_016877748.1:p.Val674=
XM_017022260.1:c.1955T= XP_016877749.1:p.Val652=
XM_017022261.1:c.1898T= XP_016877750.1:p.Val633=
XM_017022262.1:c.2093T= XP_016877751.1:p.Val698=
XM_017022263.1:c.2093T= XP_016877752.1:p.Val698=
XM_017022264.1:c.2093T= XP_016877753.1:p.Val698=
NM_000275.3:c.2069T= MANE Select NP_000266.2:p.Val690=
NM_001300984.2:c.1997T= NP_001287913.1:p.Val666=