Canonical Allele Identifier: CA185953

Gene: CRB2

Linked Data

• ClinVar Variation Id: 180707
• ClinVar RCV Id: RCV000157662
• dbSNP Id: rs730880377
• ExAC: 9:126133229 C / T
• gnomAD v2: 9-126133229-C-T
• gnomAD v3: 9-123370950-C-T
• gnomAD v4: 9-123370950-C-T
• COSMIC: COSM5063592 ; COSM5063593
• MyVariant Identifiers: chr9:g.126133229C>T (hg19) ; chr9:g.123370950C>T (hg38)
• PubMed: PMID:25557780

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123370950C>T , CM000671.2:g.123370950C>T	GRCh38
NC_000009.11:g.126133229C>T , CM000671.1:g.126133229C>T	GRCh37
NC_000009.10:g.125173050C>T	NCBI36
NG_051311.1:g.21886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.1897C>T MANE Select	ENSP00000362734.3:p.Arg633Trp
ENST00000359999.7:c.1897C>T	ENSP00000353092.3:p.Arg633Trp
ENST00000373631.7:c.1897C>T	ENSP00000362734.3:p.Arg633Trp
ENST00000460253.1:c.901C>T	ENSP00000435279.1:p.Arg301Trp
NM_173689.6:c.1897C>T	NP_775960.4:p.Arg633Trp
NR_104603.1:n.1011C>T
XM_005251934.1:c.901C>T	XP_005251991.1:p.Arg301Trp
XM_011518556.1:c.1897C>T	XP_011516858.1:p.Arg633Trp
XM_011518557.1:c.1702C>T	XP_011516859.1:p.Arg568Trp
XM_011518558.1:c.1702C>T	XP_011516860.1:p.Arg568Trp
XM_005251934.3:c.901C>T	XP_005251991.1:p.Arg301Trp
XM_011518556.3:c.1897C>T	XP_011516858.1:p.Arg633Trp
XM_011518557.3:c.1702C>T	XP_011516859.1:p.Arg568Trp
XM_011518558.3:c.1702C>T	XP_011516860.1:p.Arg568Trp
NM_173689.7:c.1897C>T MANE Select	NP_775960.4:p.Arg633Trp
NR_104603.2:n.1011C>T