Canonical Allele Identifier: CA7439501
Community Standard Title: NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28027980G>A , CM000677.2:g.28027980G>A GRCh38
NC_000015.9:g.28273126G>A , CM000677.1:g.28273126G>A GRCh37
NC_000015.8:g.25946721G>A NCBI36
NG_009846.1:g.76333C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000275.3:c.406C>T MANE Select NP_000266.2:p.Arg136Ter
ENST00000354638.8:c.406C>T MANE Select ENSP00000346659.3:p.Arg136Ter
NM_000275.2:c.406C>T NP_000266.2:p.Arg136Ter
NM_001300984.1:c.406C>T NP_001287913.1:p.Arg136Ter
NM_001300984.2:c.406C>T NP_001287913.1:p.Arg136Ter
ENST00000353809.9:c.406C>T ENSP00000261276.8:p.Arg136Ter
ENST00000354638.7:c.406C>T ENSP00000346659.3:p.Arg136Ter
ENST00000431101.1:c.406C>T ENSP00000415431.1:p.Arg136Ter
ENST00000445578.5:c.406C>T ENSP00000414425.1:p.Arg136Ter
XM_011521639.1:c.430C>T XP_011519941.1:p.Arg144Ter
XM_011521640.1:c.406C>T XP_011519942.1:p.Arg136Ter
XM_011521640.2:c.406C>T XP_011519942.1:p.Arg136Ter
XM_011521641.1:c.430C>T XP_011519943.1:p.Arg144Ter
XM_011521642.1:c.430C>T XP_011519944.1:p.Arg144Ter
XM_011521643.1:c.430C>T XP_011519945.1:p.Arg144Ter
XM_011521644.1:c.430C>T XP_011519946.1:p.Arg144Ter
XM_011521645.1:c.430C>T XP_011519947.1:p.Arg144Ter
XM_011521646.1:c.430C>T XP_011519948.1:p.Arg144Ter
XM_011521647.1:c.430C>T XP_011519949.1:p.Arg144Ter
XM_017022255.1:c.430C>T XP_016877744.1:p.Arg144Ter
XM_017022256.1:c.430C>T XP_016877745.1:p.Arg144Ter
XM_017022257.1:c.430C>T XP_016877746.1:p.Arg144Ter
XM_017022258.1:c.430C>T XP_016877747.1:p.Arg144Ter
XM_017022259.1:c.430C>T XP_016877748.1:p.Arg144Ter
XM_017022260.1:c.430C>T XP_016877749.1:p.Arg144Ter
XM_017022261.1:c.235C>T XP_016877750.1:p.Arg79Ter
XM_017022262.1:c.430C>T XP_016877751.1:p.Arg144Ter
XM_017022263.1:c.430C>T XP_016877752.1:p.Arg144Ter
XM_017022264.1:c.430C>T XP_016877753.1:p.Arg144Ter
XM_017022265.1:c.430C>T XP_016877754.1:p.Arg144Ter
XR_001751294.1:n.519C>T
XR_931843.1:n.1791C>T