Canonical Allele Identifier: CA374869849

Gene: CRB2

Linked Data

• COSMIC: COSM139806
• MyVariant Identifiers: chr9:g.126139285G>A (hg19) ; chr9:g.123377006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377006G>A , CM000671.2:g.123377006G>A	GRCh38
NC_000009.11:g.126139285G>A , CM000671.1:g.126139285G>A	GRCh37
NC_000009.10:g.125179106G>A	NCBI36
NG_051311.1:g.27942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3802G>A MANE Select	ENSP00000362734.3:p.Ala1268Thr
ENST00000373631.7:c.3802G>A	ENSP00000362734.3:p.Ala1268Thr
ENST00000460253.1:c.2806G>A	ENSP00000435279.1:p.Ala936Thr
NM_173689.6:c.3802G>A	NP_775960.4:p.Ala1268Thr
NR_104603.1:n.2916G>A
XM_005251934.1:c.2806G>A	XP_005251991.1:p.Ala936Thr
XM_011518556.1:c.3775G>A	XP_011516858.1:p.Ala1259Thr
XM_011518557.1:c.3607G>A	XP_011516859.1:p.Ala1203Thr
XM_011518558.1:c.3607G>A	XP_011516860.1:p.Ala1203Thr
XM_005251934.3:c.2806G>A	XP_005251991.1:p.Ala936Thr
XM_011518556.3:c.3775G>A	XP_011516858.1:p.Ala1259Thr
XM_011518557.3:c.3607G>A	XP_011516859.1:p.Ala1203Thr
XM_011518558.3:c.3607G>A	XP_011516860.1:p.Ala1203Thr
NM_173689.7:c.3802G>A MANE Select	NP_775960.4:p.Ala1268Thr
NR_104603.2:n.2916G>A