Canonical Allele Identifier: CA2166464663

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28090656_28090661delinsTATAAC , CM000677.2:g.28090656_28090661delinsTATAAC	GRCh38
NC_000015.9:g.28335802_28335807delinsTATAAC , CM000677.1:g.28335802_28335807delinsTATAAC	GRCh37
NC_000015.8:g.26009397_26009402delinsTATAAC	NCBI36
NG_009846.1:g.13652_13657delinsGTTATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-22+8563_-22+8568delinsGTTATA MANE Select	ENSP00000346659.3:n.-22+8563_-22+8568deli...
ENST00000353809.9:c.-22+8563_-22+8568delinsGTTATA	ENSP00000261276.8:n.-22+8563_-22+8568deli...
ENST00000354638.7:c.-22+8563_-22+8568delinsGTTATA	ENSP00000346659.3:n.-22+8563_-22+8568deli...
ENST00000431101.1:c.-22+8450_-22+8455delinsGTTATA	ENSP00000415431.1:n.-22+8450_-22+8455deli...
ENST00000445578.5:c.-22+8563_-22+8568delinsGTTATA	ENSP00000414425.1:n.-22+8563_-22+8568deli...
NM_000275.2:c.-22+8563_-22+8568delinsGTTATA	NP_000266.2:n.-22+8563_-22+8568delinsGTTA...
NM_001300984.1:c.-22+8563_-22+8568delinsGTTATA	NP_001287913.1:n.-22+8563_-22+8568delinsG...
XM_011521640.1:c.-22+8563_-22+8568delinsGTTATA	XP_011519942.1:n.-22+8563_-22+8568delinsG...
XM_011521640.2:c.-22+8563_-22+8568delinsGTTATA	XP_011519942.1:n.-22+8563_-22+8568delinsG...
NM_000275.3:c.-22+8563_-22+8568delinsGTTATA MANE Select	NP_000266.2:n.-22+8563_-22+8568delinsGTTA...
NM_001300984.2:c.-22+8563_-22+8568delinsGTTATA	NP_001287913.1:n.-22+8563_-22+8568delinsG...