Canonical Allele Identifier: CA5232632

Gene: CRB2

Linked Data

• dbSNP Id: rs752172045
• ExAC: 9:126139392 C / T
• gnomAD v2: 9-126139392-C-T
• gnomAD v3: 9-123377113-C-T
• gnomAD v4: 9-123377113-C-T
• MyVariant Identifiers: chr9:g.126139392C>T (hg19) ; chr9:g.123377113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377113C>T , CM000671.2:g.123377113C>T	GRCh38
NC_000009.11:g.126139392C>T , CM000671.1:g.126139392C>T	GRCh37
NC_000009.10:g.125179213C>T	NCBI36
NG_051311.1:g.28049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*51C>T MANE Select	ENSP00000362734.3:n.*51C>T
ENST00000373631.7:c.*51C>T	ENSP00000362734.3:n.*51C>T
ENST00000460253.1:c.*51C>T	ENSP00000435279.1:n.*51C>T
NM_173689.6:c.*51C>T	NP_775960.4:n.*51C>T
NR_104603.1:n.3023C>T
XM_005251934.1:c.*51C>T	XP_005251991.1:n.*51C>T
XM_011518556.1:c.*51C>T	XP_011516858.1:n.*51C>T
XM_011518557.1:c.*51C>T	XP_011516859.1:n.*51C>T
XM_011518558.1:c.*51C>T	XP_011516860.1:n.*51C>T
XM_005251934.3:c.*51C>T	XP_005251991.1:n.*51C>T
XM_011518556.3:c.*51C>T	XP_011516858.1:n.*51C>T
XM_011518557.3:c.*51C>T	XP_011516859.1:n.*51C>T
XM_011518558.3:c.*51C>T	XP_011516860.1:n.*51C>T
NM_173689.7:c.*51C>T MANE Select	NP_775960.4:n.*51C>T
NR_104603.2:n.3023C>T