Canonical Allele Identifier: CA374869852

Gene: CRB2

Linked Data

• gnomAD v4: 9-123377007-C-A
• MyVariant Identifiers: chr9:g.126139286C>A (hg19) ; chr9:g.123377007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377007C>A , CM000671.2:g.123377007C>A	GRCh38
NC_000009.11:g.126139286C>A , CM000671.1:g.126139286C>A	GRCh37
NC_000009.10:g.125179107C>A	NCBI36
NG_051311.1:g.27943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3803C>A MANE Select	ENSP00000362734.3:p.Ala1268Asp
ENST00000373631.7:c.3803C>A	ENSP00000362734.3:p.Ala1268Asp
ENST00000460253.1:c.2807C>A	ENSP00000435279.1:p.Ala936Asp
NM_173689.6:c.3803C>A	NP_775960.4:p.Ala1268Asp
NR_104603.1:n.2917C>A
XM_005251934.1:c.2807C>A	XP_005251991.1:p.Ala936Asp
XM_011518556.1:c.3776C>A	XP_011516858.1:p.Ala1259Asp
XM_011518557.1:c.3608C>A	XP_011516859.1:p.Ala1203Asp
XM_011518558.1:c.3608C>A	XP_011516860.1:p.Ala1203Asp
XM_005251934.3:c.2807C>A	XP_005251991.1:p.Ala936Asp
XM_011518556.3:c.3776C>A	XP_011516858.1:p.Ala1259Asp
XM_011518557.3:c.3608C>A	XP_011516859.1:p.Ala1203Asp
XM_011518558.3:c.3608C>A	XP_011516860.1:p.Ala1203Asp
NM_173689.7:c.3803C>A MANE Select	NP_775960.4:p.Ala1268Asp
NR_104603.2:n.2917C>A