Canonical Allele Identifier: CA467091131

Gene: CRB2

Linked Data

• ClinVar Variation Id: 722685
• ClinVar RCV Id: RCV000896356
• dbSNP Id: rs1588224039
• gnomAD v4: 9-123377035-G-A
• MyVariant Identifiers: chr9:g.126139314G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377035G>A , CM000671.2:g.123377035G>A	GRCh38
NC_000009.11:g.126139314G>A , CM000671.1:g.126139314G>A	GRCh37
NC_000009.10:g.125179135G>A	NCBI36
NG_051311.1:g.27971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3831G>A MANE Select	ENSP00000362734.3:p.Lys1277=
ENST00000373631.7:c.3831G>A	ENSP00000362734.3:p.Lys1277=
ENST00000460253.1:c.2835G>A	ENSP00000435279.1:p.Lys945=
NM_173689.6:c.3831G>A	NP_775960.4:p.Lys1277=
NR_104603.1:n.2945G>A
XM_005251934.1:c.2835G>A	XP_005251991.1:p.Lys945=
XM_011518556.1:c.3804G>A	XP_011516858.1:p.Lys1268=
XM_011518557.1:c.3636G>A	XP_011516859.1:p.Lys1212=
XM_011518558.1:c.3636G>A	XP_011516860.1:p.Lys1212=
XM_005251934.3:c.2835G>A	XP_005251991.1:p.Lys945=
XM_011518556.3:c.3804G>A	XP_011516858.1:p.Lys1268=
XM_011518557.3:c.3636G>A	XP_011516859.1:p.Lys1212=
XM_011518558.3:c.3636G>A	XP_011516860.1:p.Lys1212=
NM_173689.7:c.3831G>A MANE Select	NP_775960.4:p.Lys1277=
NR_104603.2:n.2945G>A