Canonical Allele Identifier: CA2166468349

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28093411_28093415delinsCAAAA , CM000677.2:g.28093411_28093415delinsCAAAA	GRCh38
NC_000015.9:g.28338557_28338561delinsCAAAA , CM000677.1:g.28338557_28338561delinsCAAAA	GRCh37
NC_000015.8:g.26012152_26012156delinsCAAAA	NCBI36
NG_009846.1:g.10898_10902delinsTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-22+5809_-22+5813delinsTTTTG MANE Select	ENSP00000346659.3:n.-22+5809_-22+5813delinsTTTTG
ENST00000353809.9:c.-22+5809_-22+5813delinsTTTTG	ENSP00000261276.8:n.-22+5809_-22+5813delinsTTTTG
ENST00000354638.7:c.-22+5809_-22+5813delinsTTTTG	ENSP00000346659.3:n.-22+5809_-22+5813delinsTTTTG
ENST00000431101.1:c.-22+5696_-22+5700delinsTTTTG	ENSP00000415431.1:n.-22+5696_-22+5700delinsTTTTG
ENST00000445578.5:c.-22+5809_-22+5813delinsTTTTG	ENSP00000414425.1:n.-22+5809_-22+5813delinsTTTTG
NM_000275.2:c.-22+5809_-22+5813delinsTTTTG	NP_000266.2:n.-22+5809_-22+5813delinsTTTTG
NM_001300984.1:c.-22+5809_-22+5813delinsTTTTG	NP_001287913.1:n.-22+5809_-22+5813delinsTTTTG
XM_011521640.1:c.-22+5809_-22+5813delinsTTTTG	XP_011519942.1:n.-22+5809_-22+5813delinsTTTTG
XM_011521640.2:c.-22+5809_-22+5813delinsTTTTG	XP_011519942.1:n.-22+5809_-22+5813delinsTTTTG
NM_000275.3:c.-22+5809_-22+5813delinsTTTTG MANE Select	NP_000266.2:n.-22+5809_-22+5813delinsTTTTG
NM_001300984.2:c.-22+5809_-22+5813delinsTTTTG	NP_001287913.1:n.-22+5809_-22+5813delinsTTTTG