Canonical Allele Identifier: CA2695197228

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2633862
• ClinVar RCV Id: RCV003400331

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926167_27926174delinsCTA , CM000677.2:g.27926167_27926174delinsCTA	GRCh38
NC_000015.9:g.28171313_28171320delinsCTA , CM000677.1:g.28171313_28171320delinsCTA	GRCh37
NC_000015.8:g.25844908_25844915delinsCTA	NCBI36
NG_009846.1:g.178139_178146delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2032_2039delinsTAG MANE Select	ENSP00000346659.3:p.Glu678Ter
ENST00000353809.9:c.1960_1967delinsTAG	ENSP00000261276.8:p.Glu654Ter
ENST00000354638.7:c.2032_2039delinsTAG	ENSP00000346659.3:p.Glu678Ter
NM_000275.2:c.2032_2039delinsTAG	NP_000266.2:p.Glu678Ter
NM_001300984.1:c.1960_1967delinsTAG	NP_001287913.1:p.Glu654Ter
XM_011521639.1:c.2056_2063delinsTAG	XP_011519941.1:p.Glu686Ter
XM_011521640.1:c.2032_2039delinsTAG	XP_011519942.1:p.Glu678Ter
XM_011521641.1:c.2056_2063delinsTAG	XP_011519943.1:p.Glu686Ter
XM_011521642.1:c.1984_1991delinsTAG	XP_011519944.1:p.Glu662Ter
XM_011521643.1:c.1984_1991delinsTAG	XP_011519945.1:p.Glu662Ter
XM_011521644.1:c.1918_1925delinsTAG	XP_011519946.1:p.Glu640Ter
XM_011521645.1:c.2056_2063delinsTAG	XP_011519947.1:p.Glu686Ter
XM_011521640.2:c.2032_2039delinsTAG	XP_011519942.1:p.Glu678Ter
XM_017022255.1:c.2056_2063delinsTAG	XP_016877744.1:p.Glu686Ter
XM_017022256.1:c.2056_2063delinsTAG	XP_016877745.1:p.Glu686Ter
XM_017022257.1:c.1984_1991delinsTAG	XP_016877746.1:p.Glu662Ter
XM_017022258.1:c.2056_2063delinsTAG	XP_016877747.1:p.Glu686Ter
XM_017022259.1:c.1984_1991delinsTAG	XP_016877748.1:p.Glu662Ter
XM_017022260.1:c.1918_1925delinsTAG	XP_016877749.1:p.Glu640Ter
XM_017022261.1:c.1861_1868delinsTAG	XP_016877750.1:p.Glu621Ter
XM_017022262.1:c.2056_2063delinsTAG	XP_016877751.1:p.Glu686Ter
XM_017022263.1:c.2056_2063delinsTAG	XP_016877752.1:p.Glu686Ter
XM_017022264.1:c.2056_2063delinsTAG	XP_016877753.1:p.Glu686Ter
NM_000275.3:c.2032_2039delinsTAG MANE Select	NP_000266.2:p.Glu678Ter
NM_001300984.2:c.1960_1967delinsTAG	NP_001287913.1:p.Glu654Ter