Canonical Allele Identifier: CA10575685

Gene: CRB2

Linked Data

• ClinVar Variation Id: 180699
• ClinVar RCV Id: RCV000157654 ; RCV001328764
• dbSNP Id: rs879255250
• gnomAD v4: 9-123370912-G-C
• MyVariant Identifiers: chr9:g.126133191G>C (hg19) ; chr9:g.123370912G>C (hg38)
• PubMed: PMID:25557779

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123370912G>C , CM000671.2:g.123370912G>C	GRCh38
NC_000009.11:g.126133191G>C , CM000671.1:g.126133191G>C	GRCh37
NC_000009.10:g.125173012G>C	NCBI36
NG_051311.1:g.21848G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373631.8:c.1859G>C MANE Select	ENSP00000362734.3:p.Cys620Ser
ENST00000359999.7:c.1859G>C	ENSP00000353092.3:p.Cys620Ser
ENST00000373631.7:c.1859G>C	ENSP00000362734.3:p.Cys620Ser
ENST00000460253.1:c.863G>C	ENSP00000435279.1:p.Cys288Ser
NM_173689.6:c.1859G>C	NP_775960.4:p.Cys620Ser
NR_104603.1:n.973G>C
XM_005251934.1:c.863G>C	XP_005251991.1:p.Cys288Ser
XM_011518556.1:c.1859G>C	XP_011516858.1:p.Cys620Ser
XM_011518557.1:c.1664G>C	XP_011516859.1:p.Cys555Ser
XM_011518558.1:c.1664G>C	XP_011516860.1:p.Cys555Ser
XM_005251934.3:c.863G>C	XP_005251991.1:p.Cys288Ser
XM_011518556.3:c.1859G>C	XP_011516858.1:p.Cys620Ser
XM_011518557.3:c.1664G>C	XP_011516859.1:p.Cys555Ser
XM_011518558.3:c.1664G>C	XP_011516860.1:p.Cys555Ser
NM_173689.7:c.1859G>C MANE Select	NP_775960.4:p.Cys620Ser
NR_104603.2:n.973G>C