Canonical Allele Identifier: CA350291718

Gene: CASP10

Linked Data

• ClinVar Variation Id: 652716
• ClinVar RCV Id: RCV001796786
• dbSNP Id: rs1181337952
• MyVariant Identifiers: chr2:g.202074018C>A (hg19) ; chr2:g.201209295C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209295C>A , CM000664.2:g.201209295C>A	GRCh38
NC_000002.11:g.202074018C>A , CM000664.1:g.202074018C>A	GRCh37
NC_000002.10:g.201782263C>A	NCBI36
NG_007265.1:g.31164C>A , LRG_33:g.31164C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313728.12:c.947C>A	ENSP00000314599.7:p.Ala316Asp
ENST00000346817.10:c.1019C>A	ENSP00000237865.7:p.Ala340Asp
ENST00000438843.6:c.*605C>A	ENSP00000401914.1:n.*605C>A
ENST00000492363.6:c.*234C>A	ENSP00000512459.1:n.*234C>A
ENST00000696199.1:c.721+5529C>A	ENSP00000512481.1:n.721+5529C>A
ENST00000286186.11:c.1148C>A MANE Select	ENSP00000286186.6:p.Ala383Asp
ENST00000272879.9:c.1148C>A	ENSP00000272879.5:p.Ala383Asp
ENST00000286186.10:c.1148C>A	ENSP00000286186.6:p.Ala383Asp
ENST00000313728.11:c.947C>A	ENSP00000314599.7:p.Ala316Asp
ENST00000346817.9:c.1019C>A	ENSP00000237865.7:p.Ala340Asp
ENST00000360132.7:c.*234C>A	ENSP00000353250.3:n.*234C>A
ENST00000448480.1:c.1019C>A	ENSP00000396835.1:p.Ala340Asp
ENST00000492363.5:n.1056C>A
NM_001206524.1:c.947C>A	NP_001193453.1:p.Ala316Asp
NM_001206542.1:c.1019C>A	NP_001193471.1:p.Ala340Asp
NM_001230.4:c.1019C>A	NP_001221.2:p.Ala340Asp
NM_032974.4:c.1148C>A	NP_116756.2:p.Ala383Asp
NM_032976.3:c.*234C>A	NP_116758.1:n.*234C>A
NM_032977.3:c.1148C>A , LRG_33t1:c.1148C>A	NP_116759.2:p.Ala383Asp
XM_005246907.2:c.1145C>A	XP_005246964.1:p.Ala382Asp
XM_006712796.2:c.398C>A	XP_006712859.1:p.Ala133Asp
XM_006712796.3:c.398C>A	XP_006712859.1:p.Ala133Asp
NM_001206524.2:c.947C>A	NP_001193453.1:p.Ala316Asp
NM_001206542.2:c.1019C>A	NP_001193471.1:p.Ala340Asp
NM_001230.5:c.1019C>A	NP_001221.2:p.Ala340Asp
NM_032974.5:c.1148C>A	NP_116756.2:p.Ala383Asp
NM_032977.4:c.1148C>A MANE Select	NP_116759.2:p.Ala383Asp
NM_032976.4:c.*234C>A	NP_116758.1:n.*234C>A