Canonical Allele Identifier: CA391360062
Gene: OCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27851421G>A , CM000677.2:g.27851421G>A GRCh38
NC_000015.9:g.28096567G>A , CM000677.1:g.28096567G>A GRCh37
NC_000015.8:g.25770162G>A NCBI36
NG_009846.1:g.252892C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.2299C>T MANE Select ENSP00000346659.3:p.Pro767Ser
ENST00000353809.9:c.2227C>T ENSP00000261276.8:p.Pro743Ser
ENST00000354638.7:c.2299C>T ENSP00000346659.3:p.Pro767Ser
NM_000275.2:c.2299C>T NP_000266.2:p.Pro767Ser
NM_001300984.1:c.2227C>T NP_001287913.1:p.Pro743Ser
XM_011521639.1:c.2365C>T XP_011519941.1:p.Pro789Ser
XM_011521640.1:c.2341C>T XP_011519942.1:p.Pro781Ser
XM_011521641.1:c.2323C>T XP_011519943.1:p.Pro775Ser
XM_011521642.1:c.2293C>T XP_011519944.1:p.Pro765Ser
XM_011521643.1:c.2251C>T XP_011519945.1:p.Pro751Ser
XM_011521644.1:c.2227C>T XP_011519946.1:p.Pro743Ser
XM_011521645.1:c.2158C>T XP_011519947.1:p.Pro720Ser
XM_011521640.2:c.2341C>T XP_011519942.1:p.Pro781Ser
XM_017022255.1:c.2365C>T XP_016877744.1:p.Pro789Ser
XM_017022256.1:c.2323C>T XP_016877745.1:p.Pro775Ser
XM_017022257.1:c.2293C>T XP_016877746.1:p.Pro765Ser
XM_017022258.1:c.2323C>T XP_016877747.1:p.Pro775Ser
XM_017022259.1:c.2251C>T XP_016877748.1:p.Pro751Ser
XM_017022260.1:c.2227C>T XP_016877749.1:p.Pro743Ser
XM_017022261.1:c.2170C>T XP_016877750.1:p.Pro724Ser
XM_017022262.1:c.2268+19733C>T XP_016877751.1:n.2268+19733C>T
XM_017022263.1:c.2158C>T XP_016877752.1:p.Pro720Ser
XM_017022264.1:c.2158C>T XP_016877753.1:p.Pro720Ser
NM_000275.3:c.2299C>T MANE Select NP_000266.2:p.Pro767Ser
NM_001300984.2:c.2227C>T NP_001287913.1:p.Pro743Ser