Canonical Allele Identifier: CA2053088

Gene: CASP10

Linked Data

• ClinVar Variation Id: 333431
• ClinVar RCV Id: RCV000327608 ; RCV004021789
• dbSNP Id: rs369897442
• ExAC: 2:202072863 C / A
• gnomAD v2: 2-202072863-C-A
• gnomAD v3: 2-201208140-C-A
• gnomAD v4: 2-201208140-C-A
• MyVariant Identifiers: chr2:g.202072863C>A (hg19) ; chr2:g.201208140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208140C>A , CM000664.2:g.201208140C>A	GRCh38
NC_000002.11:g.202072863C>A , CM000664.1:g.202072863C>A	GRCh37
NC_000002.10:g.201781108C>A	NCBI36
NG_007265.1:g.30009C>A , LRG_33:g.30009C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-930C>A	ENSP00000314599.7:n.722-930C>A
ENST00000346817.10:c.750C>A	ENSP00000237865.7:p.Ser250Arg
ENST00000438843.6:c.*336C>A	ENSP00000401914.1:n.*336C>A
ENST00000492363.6:c.787C>A	ENSP00000512459.1:p.Leu263Ile
ENST00000696199.1:c.721+4374C>A	ENSP00000512481.1:n.721+4374C>A
ENST00000286186.11:c.879C>A MANE Select	ENSP00000286186.6:p.Ser293Arg
ENST00000272879.9:c.879C>A	ENSP00000272879.5:p.Ser293Arg
ENST00000286186.10:c.879C>A	ENSP00000286186.6:p.Ser293Arg
ENST00000313728.11:c.722-930C>A	ENSP00000314599.7:n.722-930C>A
ENST00000346817.9:c.750C>A	ENSP00000237865.7:p.Ser250Arg
ENST00000360132.7:c.787C>A	ENSP00000353250.3:p.Leu263Ile
ENST00000438843.5:c.*336C>A	ENSP00000401914.1:n.*336C>A
ENST00000448480.1:c.750C>A	ENSP00000396835.1:p.Ser250Arg
ENST00000492363.5:n.787C>A
NM_001206524.1:c.722-930C>A	NP_001193453.1:n.722-930C>A
NM_001206542.1:c.750C>A	NP_001193471.1:p.Ser250Arg
NM_001230.4:c.750C>A	NP_001221.2:p.Ser250Arg
NM_032974.4:c.879C>A	NP_116756.2:p.Ser293Arg
NM_032976.3:c.787C>A	NP_116758.1:p.Leu263Ile
NM_032977.3:c.879C>A , LRG_33t1:c.879C>A	NP_116759.2:p.Ser293Arg
XM_005246907.2:c.876C>A	XP_005246964.1:p.Ser292Arg
XM_006712796.2:c.129C>A	XP_006712859.1:p.Ser43Arg
XM_011511990.1:c.784C>A	XP_011510292.1:p.Leu262Ile
XR_923043.1:n.1083C>A
XR_923044.1:n.991C>A
XM_006712796.3:c.129C>A	XP_006712859.1:p.Ser43Arg
XM_011511990.2:c.784C>A	XP_011510292.1:p.Leu262Ile
XR_923043.2:n.1083C>A
XR_923044.2:n.991C>A
NM_001206524.2:c.722-930C>A	NP_001193453.1:n.722-930C>A
NM_001206542.2:c.750C>A	NP_001193471.1:p.Ser250Arg
NM_001230.5:c.750C>A	NP_001221.2:p.Ser250Arg
NM_032974.5:c.879C>A	NP_116756.2:p.Ser293Arg
NM_032977.4:c.879C>A MANE Select	NP_116759.2:p.Ser293Arg
NM_032976.4:c.787C>A	NP_116758.1:p.Leu263Ile