Canonical Allele Identifier: CA5232622

Gene: CRB2

Linked Data

• dbSNP Id: rs766317809
• ExAC: 9:126139322 CGGA / C
• gnomAD v2: 9-126139322-CGGA-C
• gnomAD v4: 9-123377043-CGGA-C
• MyVariant Identifiers: chr9:g.126139323_126139325del (hg19) ; chr9:g.123377044_123377046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377048_123377050del , CM000671.2:g.123377048_123377050del	GRCh38
NC_000009.11:g.126139327_126139329del , CM000671.1:g.126139327_126139329del	GRCh37
NC_000009.10:g.125179148_125179150del	NCBI36
NG_051311.1:g.27984_27986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3844_3846del MANE Select	ENSP00000362734.3:p.Glu1282del
ENST00000373631.7:c.3844_3846del	ENSP00000362734.3:p.Glu1282del
ENST00000460253.1:c.2848_2850del	ENSP00000435279.1:p.Glu950del
NM_173689.6:c.3844_3846del	NP_775960.4:p.Glu1282del
NR_104603.1:n.2958_2960del
XM_005251934.1:c.2848_2850del	XP_005251991.1:p.Glu950del
XM_011518556.1:c.3817_3819del	XP_011516858.1:p.Glu1273del
XM_011518557.1:c.3649_3651del	XP_011516859.1:p.Glu1217del
XM_011518558.1:c.3649_3651del	XP_011516860.1:p.Glu1217del
XM_005251934.3:c.2848_2850del	XP_005251991.1:p.Glu950del
XM_011518556.3:c.3817_3819del	XP_011516858.1:p.Glu1273del
XM_011518557.3:c.3649_3651del	XP_011516859.1:p.Glu1217del
XM_011518558.3:c.3649_3651del	XP_011516860.1:p.Glu1217del
NM_173689.7:c.3844_3846del MANE Select	NP_775960.4:p.Glu1282del
NR_104603.2:n.2958_2960del