Canonical Allele Identifier: CA5232404

Gene: CRB2

Linked Data

• ClinVar Variation Id: 715254
• ClinVar RCV Id: RCV000887694
• dbSNP Id: rs754880909
• ExAC: 9:126136083 C / T
• gnomAD v2: 9-126136083-C-T
• gnomAD v4: 9-123373804-C-T
• MyVariant Identifiers: chr9:g.126136083C>T (hg19) ; chr9:g.123373804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373804C>T , CM000671.2:g.123373804C>T	GRCh38
NC_000009.11:g.126136083C>T , CM000671.1:g.126136083C>T	GRCh37
NC_000009.10:g.125175904C>T	NCBI36
NG_051311.1:g.24740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3273C>T MANE Select	ENSP00000362734.3:p.Cys1091=
ENST00000359999.7:c.3273C>T	ENSP00000353092.3:p.Cys1091=
ENST00000373631.7:c.3273C>T	ENSP00000362734.3:p.Cys1091=
ENST00000460253.1:c.2277C>T	ENSP00000435279.1:p.Cys759=
NM_173689.6:c.3273C>T	NP_775960.4:p.Cys1091=
NR_104603.1:n.2387C>T
XM_005251934.1:c.2277C>T	XP_005251991.1:p.Cys759=
XM_011518556.1:c.3246C>T	XP_011516858.1:p.Cys1082=
XM_011518557.1:c.3078C>T	XP_011516859.1:p.Cys1026=
XM_011518558.1:c.3078C>T	XP_011516860.1:p.Cys1026=
XM_005251934.3:c.2277C>T	XP_005251991.1:p.Cys759=
XM_011518556.3:c.3246C>T	XP_011516858.1:p.Cys1082=
XM_011518557.3:c.3078C>T	XP_011516859.1:p.Cys1026=
XM_011518558.3:c.3078C>T	XP_011516860.1:p.Cys1026=
NM_173689.7:c.3273C>T MANE Select	NP_775960.4:p.Cys1091=
NR_104603.2:n.2387C>T