Canonical Allele Identifier: CA2166468343

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093409_28093410delinsCT , CM000677.2:g.28093409_28093410delinsCT	GRCh38
NC_000015.9:g.28338555_28338556delinsCT , CM000677.1:g.28338555_28338556delinsCT	GRCh37
NC_000015.8:g.26012150_26012151delinsCT	NCBI36
NG_009846.1:g.10903_10904delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5814_-22+5815delinsAG MANE Select	ENSP00000346659.3:n.-22+5814_-22+5815delinsAG
ENST00000353809.9:c.-22+5814_-22+5815delinsAG	ENSP00000261276.8:n.-22+5814_-22+5815delinsAG
ENST00000354638.7:c.-22+5814_-22+5815delinsAG	ENSP00000346659.3:n.-22+5814_-22+5815delinsAG
ENST00000431101.1:c.-22+5701_-22+5702delinsAG	ENSP00000415431.1:n.-22+5701_-22+5702delinsAG
ENST00000445578.5:c.-22+5814_-22+5815delinsAG	ENSP00000414425.1:n.-22+5814_-22+5815delinsAG
NM_000275.2:c.-22+5814_-22+5815delinsAG	NP_000266.2:n.-22+5814_-22+5815delinsAG
NM_001300984.1:c.-22+5814_-22+5815delinsAG	NP_001287913.1:n.-22+5814_-22+5815delinsAG
XM_011521640.1:c.-22+5814_-22+5815delinsAG	XP_011519942.1:n.-22+5814_-22+5815delinsAG
XM_011521640.2:c.-22+5814_-22+5815delinsAG	XP_011519942.1:n.-22+5814_-22+5815delinsAG
NM_000275.3:c.-22+5814_-22+5815delinsAG MANE Select	NP_000266.2:n.-22+5814_-22+5815delinsAG
NM_001300984.2:c.-22+5814_-22+5815delinsAG	NP_001287913.1:n.-22+5814_-22+5815delinsAG