Canonical Allele Identifier: CA2627378139

Gene: OCA2

Linked Data

• gnomAD v4: 15-27851231-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851234_27851235del , CM000677.2:g.27851234_27851235del	GRCh38
NC_000015.9:g.28096380_28096381del , CM000677.1:g.28096380_28096381del	GRCh37
NC_000015.8:g.25769975_25769976del	NCBI36
NG_009846.1:g.253080_253081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2338+149_2338+150del MANE Select	ENSP00000346659.3:n.2338+149_2338+150del
ENST00000353809.9:c.2266+149_2266+150del	ENSP00000261276.8:n.2266+149_2266+150del
ENST00000354638.7:c.2338+149_2338+150del	ENSP00000346659.3:n.2338+149_2338+150del
NM_000275.2:c.2338+149_2338+150del	NP_000266.2:n.2338+149_2338+150del
NM_001300984.1:c.2266+149_2266+150del	NP_001287913.1:n.2266+149_2266+150del
XM_011521639.1:c.2404+149_2404+150del	XP_011519941.1:n.2404+149_2404+150del
XM_011521640.1:c.2380+149_2380+150del	XP_011519942.1:n.2380+149_2380+150del
XM_011521641.1:c.2362+149_2362+150del	XP_011519943.1:n.2362+149_2362+150del
XM_011521642.1:c.2332+149_2332+150del	XP_011519944.1:n.2332+149_2332+150del
XM_011521643.1:c.2290+149_2290+150del	XP_011519945.1:n.2290+149_2290+150del
XM_011521644.1:c.2266+149_2266+150del	XP_011519946.1:n.2266+149_2266+150del
XM_011521645.1:c.2197+149_2197+150del	XP_011519947.1:n.2197+149_2197+150del
XM_011521640.2:c.2380+149_2380+150del	XP_011519942.1:n.2380+149_2380+150del
XM_017022255.1:c.2404+149_2404+150del	XP_016877744.1:n.2404+149_2404+150del
XM_017022256.1:c.2362+149_2362+150del	XP_016877745.1:n.2362+149_2362+150del
XM_017022257.1:c.2332+149_2332+150del	XP_016877746.1:n.2332+149_2332+150del
XM_017022258.1:c.2362+149_2362+150del	XP_016877747.1:n.2362+149_2362+150del
XM_017022259.1:c.2290+149_2290+150del	XP_016877748.1:n.2290+149_2290+150del
XM_017022260.1:c.2266+149_2266+150del	XP_016877749.1:n.2266+149_2266+150del
XM_017022261.1:c.2209+149_2209+150del	XP_016877750.1:n.2209+149_2209+150del
XM_017022262.1:c.2268+19921_2268+19922del	XP_016877751.1:n.2268+19921_2268+19922del
XM_017022263.1:c.2197+149_2197+150del	XP_016877752.1:n.2197+149_2197+150del
XM_017022264.1:c.2197+149_2197+150del	XP_016877753.1:n.2197+149_2197+150del
NM_000275.3:c.2338+149_2338+150del MANE Select	NP_000266.2:n.2338+149_2338+150del
NM_001300984.2:c.2266+149_2266+150del	NP_001287913.1:n.2266+149_2266+150del