Canonical Allele Identifier: CA185951

Gene: CRB2

Linked Data

• ClinVar Variation Id: 180703
• ClinVar RCV Id: RCV000157658 ; RCV000897096 ; RCV002515059
• dbSNP Id: rs147412276
• ExAC: 9:126139229 G / A
• gnomAD v2: 9-126139229-G-A
• gnomAD v3: 9-123376950-G-A
• gnomAD v4: 9-123376950-G-A
• MyVariant Identifiers: chr9:g.126139229G>A (hg19) ; chr9:g.123376950G>A (hg38)
• PubMed: PMID:25557779

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376950G>A , CM000671.2:g.123376950G>A	GRCh38
NC_000009.11:g.126139229G>A , CM000671.1:g.126139229G>A	GRCh37
NC_000009.10:g.125179050G>A	NCBI36
NG_051311.1:g.27886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3746G>A MANE Select	ENSP00000362734.3:p.Arg1249Gln
ENST00000373631.7:c.3746G>A	ENSP00000362734.3:p.Arg1249Gln
ENST00000460253.1:c.2750G>A	ENSP00000435279.1:p.Arg917Gln
NM_173689.6:c.3746G>A	NP_775960.4:p.Arg1249Gln
NR_104603.1:n.2860G>A
XM_005251934.1:c.2750G>A	XP_005251991.1:p.Arg917Gln
XM_011518556.1:c.3719G>A	XP_011516858.1:p.Arg1240Gln
XM_011518557.1:c.3551G>A	XP_011516859.1:p.Arg1184Gln
XM_011518558.1:c.3551G>A	XP_011516860.1:p.Arg1184Gln
XM_005251934.3:c.2750G>A	XP_005251991.1:p.Arg917Gln
XM_011518556.3:c.3719G>A	XP_011516858.1:p.Arg1240Gln
XM_011518557.3:c.3551G>A	XP_011516859.1:p.Arg1184Gln
XM_011518558.3:c.3551G>A	XP_011516860.1:p.Arg1184Gln
NM_173689.7:c.3746G>A MANE Select	NP_775960.4:p.Arg1249Gln
NR_104603.2:n.2860G>A