Canonical Allele Identifier: CA374869841

Gene: CRB2

Linked Data

• dbSNP Id: rs1158395546
• gnomAD v2: 9-126139280-C-G
• gnomAD v4: 9-123377001-C-G
• MyVariant Identifiers: chr9:g.126139280C>G (hg19) ; chr9:g.123377001C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377001C>G , CM000671.2:g.123377001C>G	GRCh38
NC_000009.11:g.126139280C>G , CM000671.1:g.126139280C>G	GRCh37
NC_000009.10:g.125179101C>G	NCBI36
NG_051311.1:g.27937C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3797C>G MANE Select	ENSP00000362734.3:p.Ala1266Gly
ENST00000373631.7:c.3797C>G	ENSP00000362734.3:p.Ala1266Gly
ENST00000460253.1:c.2801C>G	ENSP00000435279.1:p.Ala934Gly
NM_173689.6:c.3797C>G	NP_775960.4:p.Ala1266Gly
NR_104603.1:n.2911C>G
XM_005251934.1:c.2801C>G	XP_005251991.1:p.Ala934Gly
XM_011518556.1:c.3770C>G	XP_011516858.1:p.Ala1257Gly
XM_011518557.1:c.3602C>G	XP_011516859.1:p.Ala1201Gly
XM_011518558.1:c.3602C>G	XP_011516860.1:p.Ala1201Gly
XM_005251934.3:c.2801C>G	XP_005251991.1:p.Ala934Gly
XM_011518556.3:c.3770C>G	XP_011516858.1:p.Ala1257Gly
XM_011518557.3:c.3602C>G	XP_011516859.1:p.Ala1201Gly
XM_011518558.3:c.3602C>G	XP_011516860.1:p.Ala1201Gly
NM_173689.7:c.3797C>G MANE Select	NP_775960.4:p.Ala1266Gly
NR_104603.2:n.2911C>G