Canonical Allele Identifier: CA350289559

Gene: CASP10

Linked Data

• ClinVar Variation Id: 898480
• ClinVar RCV Id: RCV001142355
• dbSNP Id: rs1233007817
• gnomAD v3: 2-201209207-T-C
• gnomAD v4: 2-201209207-T-C
• MyVariant Identifiers: chr2:g.202073930T>C (hg19) ; chr2:g.201209207T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209207T>C , CM000664.2:g.201209207T>C	GRCh38
NC_000002.11:g.202073930T>C , CM000664.1:g.202073930T>C	GRCh37
NC_000002.10:g.201782175T>C	NCBI36
NG_007265.1:g.31076T>C , LRG_33:g.31076T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313728.12:c.859T>C	ENSP00000314599.7:p.Cys287Arg
ENST00000346817.10:c.931T>C	ENSP00000237865.7:p.Cys311Arg
ENST00000438843.6:c.*517T>C	ENSP00000401914.1:n.*517T>C
ENST00000492363.6:c.*146T>C	ENSP00000512459.1:n.*146T>C
ENST00000696199.1:c.721+5441T>C	ENSP00000512481.1:n.721+5441T>C
ENST00000286186.11:c.1060T>C MANE Select	ENSP00000286186.6:p.Cys354Arg
ENST00000272879.9:c.1060T>C	ENSP00000272879.5:p.Cys354Arg
ENST00000286186.10:c.1060T>C	ENSP00000286186.6:p.Cys354Arg
ENST00000313728.11:c.859T>C	ENSP00000314599.7:p.Cys287Arg
ENST00000346817.9:c.931T>C	ENSP00000237865.7:p.Cys311Arg
ENST00000360132.7:c.*146T>C	ENSP00000353250.3:n.*146T>C
ENST00000448480.1:c.931T>C	ENSP00000396835.1:p.Cys311Arg
ENST00000492363.5:n.968T>C
NM_001206524.1:c.859T>C	NP_001193453.1:p.Cys287Arg
NM_001206542.1:c.931T>C	NP_001193471.1:p.Cys311Arg
NM_001230.4:c.931T>C	NP_001221.2:p.Cys311Arg
NM_032974.4:c.1060T>C	NP_116756.2:p.Cys354Arg
NM_032976.3:c.*146T>C	NP_116758.1:n.*146T>C
NM_032977.3:c.1060T>C , LRG_33t1:c.1060T>C	NP_116759.2:p.Cys354Arg
XM_005246907.2:c.1057T>C	XP_005246964.1:p.Cys353Arg
XM_006712796.2:c.310T>C	XP_006712859.1:p.Cys104Arg
XM_006712796.3:c.310T>C	XP_006712859.1:p.Cys104Arg
NM_001206524.2:c.859T>C	NP_001193453.1:p.Cys287Arg
NM_001206542.2:c.931T>C	NP_001193471.1:p.Cys311Arg
NM_001230.5:c.931T>C	NP_001221.2:p.Cys311Arg
NM_032974.5:c.1060T>C	NP_116756.2:p.Cys354Arg
NM_032977.4:c.1060T>C MANE Select	NP_116759.2:p.Cys354Arg
NM_032976.4:c.*146T>C	NP_116758.1:n.*146T>C