Canonical Allele Identifier: CA711762455

Gene: OCA2

Linked Data

• dbSNP Id: rs1246402200
• gnomAD v3: 15-28083520-CCTGGTA-C
• gnomAD v4: 15-28083520-CCTGGTA-C
• MyVariant Identifiers: chr15:g.28328667_28328672del (hg19) ; chr15:g.28083521_28083526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28083521_28083526del , CM000677.2:g.28083521_28083526del	GRCh38
NC_000015.9:g.28328667_28328672del , CM000677.1:g.28328667_28328672del	GRCh37
NC_000015.8:g.26002262_26002267del	NCBI36
NG_009846.1:g.20787_20792del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-21-1631_-21-1626del MANE Select	ENSP00000346659.3:n.-21-1631_-21-1626del
ENST00000353809.9:c.-21-1631_-21-1626del	ENSP00000261276.8:n.-21-1631_-21-1626del
ENST00000354638.7:c.-21-1631_-21-1626del	ENSP00000346659.3:n.-21-1631_-21-1626del
ENST00000431101.1:c.-21-1631_-21-1626del	ENSP00000415431.1:n.-21-1631_-21-1626del
ENST00000445578.5:c.-21-1631_-21-1626del	ENSP00000414425.1:n.-21-1631_-21-1626del
NM_000275.2:c.-21-1631_-21-1626del	NP_000266.2:n.-21-1631_-21-1626del
NM_001300984.1:c.-21-1631_-21-1626del	NP_001287913.1:n.-21-1631_-21-1626del
XM_011521639.1:c.-591-6_-591-1del	XP_011519941.1:n.-591-6_-591-1del
XM_011521640.1:c.-21-1631_-21-1626del	XP_011519942.1:n.-21-1631_-21-1626del
XM_011521641.1:c.-591-6_-591-1del	XP_011519943.1:n.-591-6_-591-1del
XM_011521642.1:c.-591-6_-591-1del	XP_011519944.1:n.-591-6_-591-1del
XM_011521643.1:c.-591-6_-591-1del	XP_011519945.1:n.-591-6_-591-1del
XM_011521644.1:c.-591-6_-591-1del	XP_011519946.1:n.-591-6_-591-1del
XM_011521645.1:c.-591-6_-591-1del	XP_011519947.1:n.-591-6_-591-1del
XM_011521646.1:c.-591-6_-591-1del	XP_011519948.1:n.-591-6_-591-1del
XM_011521647.1:c.-591-6_-591-1del	XP_011519949.1:n.-591-6_-591-1del
XR_931843.1:n.771-6_771-1del
XM_011521640.2:c.-21-1631_-21-1626del	XP_011519942.1:n.-21-1631_-21-1626del
NM_000275.3:c.-21-1631_-21-1626del MANE Select	NP_000266.2:n.-21-1631_-21-1626del
NM_001300984.2:c.-21-1631_-21-1626del	NP_001287913.1:n.-21-1631_-21-1626del