Canonical Allele Identifier: CA374869685

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376926-T-C
• MyVariant Identifiers: chr9:g.126139205T>C (hg19) ; chr9:g.123376926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376926T>C , CM000671.2:g.123376926T>C	GRCh38
NC_000009.11:g.126139205T>C , CM000671.1:g.126139205T>C	GRCh37
NC_000009.10:g.125179026T>C	NCBI36
NG_051311.1:g.27862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3722T>C MANE Select	ENSP00000362734.3:p.Leu1241Pro
ENST00000373631.7:c.3722T>C	ENSP00000362734.3:p.Leu1241Pro
ENST00000460253.1:c.2726T>C	ENSP00000435279.1:p.Leu909Pro
NM_173689.6:c.3722T>C	NP_775960.4:p.Leu1241Pro
NR_104603.1:n.2836T>C
XM_005251934.1:c.2726T>C	XP_005251991.1:p.Leu909Pro
XM_011518556.1:c.3695T>C	XP_011516858.1:p.Leu1232Pro
XM_011518557.1:c.3527T>C	XP_011516859.1:p.Leu1176Pro
XM_011518558.1:c.3527T>C	XP_011516860.1:p.Leu1176Pro
XM_005251934.3:c.2726T>C	XP_005251991.1:p.Leu909Pro
XM_011518556.3:c.3695T>C	XP_011516858.1:p.Leu1232Pro
XM_011518557.3:c.3527T>C	XP_011516859.1:p.Leu1176Pro
XM_011518558.3:c.3527T>C	XP_011516860.1:p.Leu1176Pro
NM_173689.7:c.3722T>C MANE Select	NP_775960.4:p.Leu1241Pro
NR_104603.2:n.2836T>C