Canonical Allele Identifier: CA5232614

Gene: CRB2

Linked Data

• dbSNP Id: rs371997366
• ExAC: 9:126139275 G / A
• gnomAD v2: 9-126139275-G-A
• MyVariant Identifiers: chr9:g.126139275G>A (hg19) ; chr9:g.123376996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376996G>A , CM000671.2:g.123376996G>A	GRCh38
NC_000009.11:g.126139275G>A , CM000671.1:g.126139275G>A	GRCh37
NC_000009.10:g.125179096G>A	NCBI36
NG_051311.1:g.27932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3792G>A MANE Select	ENSP00000362734.3:p.Glu1264=
ENST00000373631.7:c.3792G>A	ENSP00000362734.3:p.Glu1264=
ENST00000460253.1:c.2796G>A	ENSP00000435279.1:p.Glu932=
NM_173689.6:c.3792G>A	NP_775960.4:p.Glu1264=
NR_104603.1:n.2906G>A
XM_005251934.1:c.2796G>A	XP_005251991.1:p.Glu932=
XM_011518556.1:c.3765G>A	XP_011516858.1:p.Glu1255=
XM_011518557.1:c.3597G>A	XP_011516859.1:p.Glu1199=
XM_011518558.1:c.3597G>A	XP_011516860.1:p.Glu1199=
XM_005251934.3:c.2796G>A	XP_005251991.1:p.Glu932=
XM_011518556.3:c.3765G>A	XP_011516858.1:p.Glu1255=
XM_011518557.3:c.3597G>A	XP_011516859.1:p.Glu1199=
XM_011518558.3:c.3597G>A	XP_011516860.1:p.Glu1199=
NM_173689.7:c.3792G>A MANE Select	NP_775960.4:p.Glu1264=
NR_104603.2:n.2906G>A