Canonical Allele Identifier: CA374869921

Gene: CRB2

Linked Data

• gnomAD v4: 9-123377039-C-T
• MyVariant Identifiers: chr9:g.126139318C>T (hg19) ; chr9:g.123377039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377039C>T , CM000671.2:g.123377039C>T	GRCh38
NC_000009.11:g.126139318C>T , CM000671.1:g.126139318C>T	GRCh37
NC_000009.10:g.125179139C>T	NCBI36
NG_051311.1:g.27975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3835C>T MANE Select	ENSP00000362734.3:p.Pro1279Ser
ENST00000373631.7:c.3835C>T	ENSP00000362734.3:p.Pro1279Ser
ENST00000460253.1:c.2839C>T	ENSP00000435279.1:p.Pro947Ser
NM_173689.6:c.3835C>T	NP_775960.4:p.Pro1279Ser
NR_104603.1:n.2949C>T
XM_005251934.1:c.2839C>T	XP_005251991.1:p.Pro947Ser
XM_011518556.1:c.3808C>T	XP_011516858.1:p.Pro1270Ser
XM_011518557.1:c.3640C>T	XP_011516859.1:p.Pro1214Ser
XM_011518558.1:c.3640C>T	XP_011516860.1:p.Pro1214Ser
XM_005251934.3:c.2839C>T	XP_005251991.1:p.Pro947Ser
XM_011518556.3:c.3808C>T	XP_011516858.1:p.Pro1270Ser
XM_011518557.3:c.3640C>T	XP_011516859.1:p.Pro1214Ser
XM_011518558.3:c.3640C>T	XP_011516860.1:p.Pro1214Ser
NM_173689.7:c.3835C>T MANE Select	NP_775960.4:p.Pro1279Ser
NR_104603.2:n.2949C>T