Canonical Allele Identifier: CA2166468375

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093418_28093433delinsAAAAAAAGAAAGAAAG , CM000677.2:g.28093418_28093433delinsAAAAAAAGAAAGAAAG	GRCh38
NC_000015.9:g.28338564_28338579delinsAAAAAAAGAAAGAAAG , CM000677.1:g.28338564_28338579delinsAAAAAAAGAAAGAAAG	GRCh37
NC_000015.8:g.26012159_26012174delinsAAAAAAAGAAAGAAAG	NCBI36
NG_009846.1:g.10880_10895delinsCTTTCTTTCTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT MANE Select	ENSP00000346659.3:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
ENST00000353809.9:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	ENSP00000261276.8:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
ENST00000354638.7:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	ENSP00000346659.3:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
ENST00000431101.1:c.-22+5678_-22+5693delinsCTTTCTTTCTTTTTTT	ENSP00000415431.1:n.-22+5678_-22+5693delinsCTTTCTTTCTTTTTTT
ENST00000445578.5:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	ENSP00000414425.1:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
NM_000275.2:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	NP_000266.2:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
NM_001300984.1:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	NP_001287913.1:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
XM_011521640.1:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	XP_011519942.1:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
XM_011521640.2:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	XP_011519942.1:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
NM_000275.3:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT MANE Select	NP_000266.2:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT
NM_001300984.2:c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT	NP_001287913.1:n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT