Canonical Allele Identifier: CA5232576

Gene: CRB2

Linked Data

• dbSNP Id: rs765294207
• ExAC: 9:126139119 G / A
• gnomAD v2: 9-126139119-G-A
• gnomAD v3: 9-123376840-G-A
• gnomAD v4: 9-123376840-G-A
• MyVariant Identifiers: chr9:g.126139119G>A (hg19) ; chr9:g.123376840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376840G>A , CM000671.2:g.123376840G>A	GRCh38
NC_000009.11:g.126139119G>A , CM000671.1:g.126139119G>A	GRCh37
NC_000009.10:g.125178940G>A	NCBI36
NG_051311.1:g.27776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3636G>A MANE Select	ENSP00000362734.3:p.Lys1212=
ENST00000373631.7:c.3636G>A	ENSP00000362734.3:p.Lys1212=
ENST00000460253.1:c.2640G>A	ENSP00000435279.1:p.Lys880=
NM_173689.6:c.3636G>A	NP_775960.4:p.Lys1212=
NR_104603.1:n.2750G>A
XM_005251934.1:c.2640G>A	XP_005251991.1:p.Lys880=
XM_011518556.1:c.3609G>A	XP_011516858.1:p.Lys1203=
XM_011518557.1:c.3441G>A	XP_011516859.1:p.Lys1147=
XM_011518558.1:c.3441G>A	XP_011516860.1:p.Lys1147=
XM_005251934.3:c.2640G>A	XP_005251991.1:p.Lys880=
XM_011518556.3:c.3609G>A	XP_011516858.1:p.Lys1203=
XM_011518557.3:c.3441G>A	XP_011516859.1:p.Lys1147=
XM_011518558.3:c.3441G>A	XP_011516860.1:p.Lys1147=
NM_173689.7:c.3636G>A MANE Select	NP_775960.4:p.Lys1212=
NR_104603.2:n.2750G>A