Canonical Allele Identifier: CA2166464576

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28090540_28090544delinsAAGAG , CM000677.2:g.28090540_28090544delinsAAGAG	GRCh38
NC_000015.9:g.28335686_28335690delinsAAGAG , CM000677.1:g.28335686_28335690delinsAAGAG	GRCh37
NC_000015.8:g.26009281_26009285delinsAAGAG	NCBI36
NG_009846.1:g.13769_13773delinsCTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-21-8649_-21-8645delinsCTCTT MANE Select	ENSP00000346659.3:n.-21-8649_-21-8645delinsCTCTT
ENST00000353809.9:c.-21-8649_-21-8645delinsCTCTT	ENSP00000261276.8:n.-21-8649_-21-8645delinsCTCTT
ENST00000354638.7:c.-21-8649_-21-8645delinsCTCTT	ENSP00000346659.3:n.-21-8649_-21-8645delinsCTCTT
ENST00000431101.1:c.-22+8567_-22+8571delinsCTCTT	ENSP00000415431.1:n.-22+8567_-22+8571delinsCTCTT
ENST00000445578.5:c.-21-8649_-21-8645delinsCTCTT	ENSP00000414425.1:n.-21-8649_-21-8645delinsCTCTT
NM_000275.2:c.-21-8649_-21-8645delinsCTCTT	NP_000266.2:n.-21-8649_-21-8645delinsCTCTT
NM_001300984.1:c.-21-8649_-21-8645delinsCTCTT	NP_001287913.1:n.-21-8649_-21-8645delinsCTCTT
XM_011521640.1:c.-21-8649_-21-8645delinsCTCTT	XP_011519942.1:n.-21-8649_-21-8645delinsCTCTT
XM_011521640.2:c.-21-8649_-21-8645delinsCTCTT	XP_011519942.1:n.-21-8649_-21-8645delinsCTCTT
NM_000275.3:c.-21-8649_-21-8645delinsCTCTT MANE Select	NP_000266.2:n.-21-8649_-21-8645delinsCTCTT
NM_001300984.2:c.-21-8649_-21-8645delinsCTCTT	NP_001287913.1:n.-21-8649_-21-8645delinsCTCTT