Canonical Allele Identifier: CA374869929

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139324G>A (hg19) ; chr9:g.123377045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377045G>A , CM000671.2:g.123377045G>A	GRCh38
NC_000009.11:g.126139324G>A , CM000671.1:g.126139324G>A	GRCh37
NC_000009.10:g.125179145G>A	NCBI36
NG_051311.1:g.27981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3841G>A MANE Select	ENSP00000362734.3:p.Glu1281Lys
ENST00000373631.7:c.3841G>A	ENSP00000362734.3:p.Glu1281Lys
ENST00000460253.1:c.2845G>A	ENSP00000435279.1:p.Glu949Lys
NM_173689.6:c.3841G>A	NP_775960.4:p.Glu1281Lys
NR_104603.1:n.2955G>A
XM_005251934.1:c.2845G>A	XP_005251991.1:p.Glu949Lys
XM_011518556.1:c.3814G>A	XP_011516858.1:p.Glu1272Lys
XM_011518557.1:c.3646G>A	XP_011516859.1:p.Glu1216Lys
XM_011518558.1:c.3646G>A	XP_011516860.1:p.Glu1216Lys
XM_005251934.3:c.2845G>A	XP_005251991.1:p.Glu949Lys
XM_011518556.3:c.3814G>A	XP_011516858.1:p.Glu1272Lys
XM_011518557.3:c.3646G>A	XP_011516859.1:p.Glu1216Lys
XM_011518558.3:c.3646G>A	XP_011516860.1:p.Glu1216Lys
NM_173689.7:c.3841G>A MANE Select	NP_775960.4:p.Glu1281Lys
NR_104603.2:n.2955G>A