Canonical Allele Identifier: CA5232623

Gene: CRB2

Linked Data

• ClinVar Variation Id: 745958
• ClinVar RCV Id: RCV000922536
• dbSNP Id: rs139686085
• ExAC: 9:126139323 G / A
• gnomAD v2: 9-126139323-G-A
• gnomAD v3: 9-123377044-G-A
• gnomAD v4: 9-123377044-G-A
• MyVariant Identifiers: chr9:g.126139323G>A (hg19) ; chr9:g.123377044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377044G>A , CM000671.2:g.123377044G>A	GRCh38
NC_000009.11:g.126139323G>A , CM000671.1:g.126139323G>A	GRCh37
NC_000009.10:g.125179144G>A	NCBI36
NG_051311.1:g.27980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3840G>A MANE Select	ENSP00000362734.3:p.Pro1280=
ENST00000373631.7:c.3840G>A	ENSP00000362734.3:p.Pro1280=
ENST00000460253.1:c.2844G>A	ENSP00000435279.1:p.Pro948=
NM_173689.6:c.3840G>A	NP_775960.4:p.Pro1280=
NR_104603.1:n.2954G>A
XM_005251934.1:c.2844G>A	XP_005251991.1:p.Pro948=
XM_011518556.1:c.3813G>A	XP_011516858.1:p.Pro1271=
XM_011518557.1:c.3645G>A	XP_011516859.1:p.Pro1215=
XM_011518558.1:c.3645G>A	XP_011516860.1:p.Pro1215=
XM_005251934.3:c.2844G>A	XP_005251991.1:p.Pro948=
XM_011518556.3:c.3813G>A	XP_011516858.1:p.Pro1271=
XM_011518557.3:c.3645G>A	XP_011516859.1:p.Pro1215=
XM_011518558.3:c.3645G>A	XP_011516860.1:p.Pro1215=
NM_173689.7:c.3840G>A MANE Select	NP_775960.4:p.Pro1280=
NR_104603.2:n.2954G>A