Canonical Allele Identifier: CA374869619

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139171G>A (hg19) ; chr9:g.123376892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376892G>A , CM000671.2:g.123376892G>A	GRCh38
NC_000009.11:g.126139171G>A , CM000671.1:g.126139171G>A	GRCh37
NC_000009.10:g.125178992G>A	NCBI36
NG_051311.1:g.27828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3688G>A MANE Select	ENSP00000362734.3:p.Ala1230Thr
ENST00000373631.7:c.3688G>A	ENSP00000362734.3:p.Ala1230Thr
ENST00000460253.1:c.2692G>A	ENSP00000435279.1:p.Ala898Thr
NM_173689.6:c.3688G>A	NP_775960.4:p.Ala1230Thr
NR_104603.1:n.2802G>A
XM_005251934.1:c.2692G>A	XP_005251991.1:p.Ala898Thr
XM_011518556.1:c.3661G>A	XP_011516858.1:p.Ala1221Thr
XM_011518557.1:c.3493G>A	XP_011516859.1:p.Ala1165Thr
XM_011518558.1:c.3493G>A	XP_011516860.1:p.Ala1165Thr
XM_005251934.3:c.2692G>A	XP_005251991.1:p.Ala898Thr
XM_011518556.3:c.3661G>A	XP_011516858.1:p.Ala1221Thr
XM_011518557.3:c.3493G>A	XP_011516859.1:p.Ala1165Thr
XM_011518558.3:c.3493G>A	XP_011516860.1:p.Ala1165Thr
NM_173689.7:c.3688G>A MANE Select	NP_775960.4:p.Ala1230Thr
NR_104603.2:n.2802G>A