Canonical Allele Identifier: CA374869795

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139261C>A (hg19) ; chr9:g.123376982C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376982C>A , CM000671.2:g.123376982C>A	GRCh38
NC_000009.11:g.126139261C>A , CM000671.1:g.126139261C>A	GRCh37
NC_000009.10:g.125179082C>A	NCBI36
NG_051311.1:g.27918C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3778C>A MANE Select	ENSP00000362734.3:p.Pro1260Thr
ENST00000373631.7:c.3778C>A	ENSP00000362734.3:p.Pro1260Thr
ENST00000460253.1:c.2782C>A	ENSP00000435279.1:p.Pro928Thr
NM_173689.6:c.3778C>A	NP_775960.4:p.Pro1260Thr
NR_104603.1:n.2892C>A
XM_005251934.1:c.2782C>A	XP_005251991.1:p.Pro928Thr
XM_011518556.1:c.3751C>A	XP_011516858.1:p.Pro1251Thr
XM_011518557.1:c.3583C>A	XP_011516859.1:p.Pro1195Thr
XM_011518558.1:c.3583C>A	XP_011516860.1:p.Pro1195Thr
XM_005251934.3:c.2782C>A	XP_005251991.1:p.Pro928Thr
XM_011518556.3:c.3751C>A	XP_011516858.1:p.Pro1251Thr
XM_011518557.3:c.3583C>A	XP_011516859.1:p.Pro1195Thr
XM_011518558.3:c.3583C>A	XP_011516860.1:p.Pro1195Thr
NM_173689.7:c.3778C>A MANE Select	NP_775960.4:p.Pro1260Thr
NR_104603.2:n.2892C>A