Canonical Allele Identifier: CA374869883

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139301A>C (hg19) ; chr9:g.123377022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377022A>C , CM000671.2:g.123377022A>C	GRCh38
NC_000009.11:g.126139301A>C , CM000671.1:g.126139301A>C	GRCh37
NC_000009.10:g.125179122A>C	NCBI36
NG_051311.1:g.27958A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3818A>C MANE Select	ENSP00000362734.3:p.Asp1273Ala
ENST00000373631.7:c.3818A>C	ENSP00000362734.3:p.Asp1273Ala
ENST00000460253.1:c.2822A>C	ENSP00000435279.1:p.Asp941Ala
NM_173689.6:c.3818A>C	NP_775960.4:p.Asp1273Ala
NR_104603.1:n.2932A>C
XM_005251934.1:c.2822A>C	XP_005251991.1:p.Asp941Ala
XM_011518556.1:c.3791A>C	XP_011516858.1:p.Asp1264Ala
XM_011518557.1:c.3623A>C	XP_011516859.1:p.Asp1208Ala
XM_011518558.1:c.3623A>C	XP_011516860.1:p.Asp1208Ala
XM_005251934.3:c.2822A>C	XP_005251991.1:p.Asp941Ala
XM_011518556.3:c.3791A>C	XP_011516858.1:p.Asp1264Ala
XM_011518557.3:c.3623A>C	XP_011516859.1:p.Asp1208Ala
XM_011518558.3:c.3623A>C	XP_011516860.1:p.Asp1208Ala
NM_173689.7:c.3818A>C MANE Select	NP_775960.4:p.Asp1273Ala
NR_104603.2:n.2932A>C