Canonical Allele Identifier: CA63863971

Gene: CASP10

Linked Data

• dbSNP Id: rs1042002030
• gnomAD v4: 2-201205906-C-A
• MyVariant Identifiers: chr2:g.202070629C>A (hg19) ; chr2:g.201205906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201205906C>A , CM000664.2:g.201205906C>A	GRCh38
NC_000002.11:g.202070629C>A , CM000664.1:g.202070629C>A	GRCh37
NC_000002.10:g.201778874C>A	NCBI36
NG_007265.1:g.27775C>A , LRG_33:g.27775C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.721+2140C>A	ENSP00000314599.7:n.721+2140C>A
ENST00000346817.10:c.685-2169C>A	ENSP00000237865.7:n.685-2169C>A
ENST00000438843.6:c.*270+2140C>A	ENSP00000401914.1:n.*270+2140C>A
ENST00000492363.6:c.721+2140C>A	ENSP00000512459.1:n.721+2140C>A
ENST00000696199.1:c.721+2140C>A	ENSP00000512481.1:n.721+2140C>A
ENST00000286186.11:c.746C>A MANE Select	ENSP00000286186.6:p.Pro249Gln
ENST00000272879.9:c.746C>A	ENSP00000272879.5:p.Pro249Gln
ENST00000286186.10:c.746C>A	ENSP00000286186.6:p.Pro249Gln
ENST00000313728.11:c.721+2140C>A	ENSP00000314599.7:n.721+2140C>A
ENST00000346817.9:c.685-2169C>A	ENSP00000237865.7:n.685-2169C>A
ENST00000360132.7:c.721+2140C>A	ENSP00000353250.3:n.721+2140C>A
ENST00000438843.5:c.*270+2140C>A	ENSP00000401914.1:n.*270+2140C>A
ENST00000448480.1:c.685-2169C>A	ENSP00000396835.1:n.685-2169C>A
ENST00000460140.5:n.950C>A
ENST00000492363.5:n.721+2140C>A
NM_001206524.1:c.721+2140C>A	NP_001193453.1:n.721+2140C>A
NM_001206542.1:c.685-2169C>A	NP_001193471.1:n.685-2169C>A
NM_001230.4:c.685-2169C>A	NP_001221.2:n.685-2169C>A
NM_032974.4:c.746C>A	NP_116756.2:p.Pro249Gln
NM_032976.3:c.721+2140C>A	NP_116758.1:n.721+2140C>A
NM_032977.3:c.746C>A , LRG_33t1:c.746C>A	NP_116759.2:p.Pro249Gln
XM_005246907.2:c.743C>A	XP_005246964.1:p.Pro248Gln
XM_006712796.2:c.63+2140C>A	XP_006712859.1:n.63+2140C>A
XM_011511990.1:c.718+2140C>A	XP_011510292.1:n.718+2140C>A
XR_923043.1:n.950C>A
XR_923044.1:n.925+2140C>A
XM_006712796.3:c.63+2140C>A	XP_006712859.1:n.63+2140C>A
XM_011511990.2:c.718+2140C>A	XP_011510292.1:n.718+2140C>A
XR_923043.2:n.950C>A
XR_923044.2:n.925+2140C>A
NM_001206524.2:c.721+2140C>A	NP_001193453.1:n.721+2140C>A
NM_001206542.2:c.685-2169C>A	NP_001193471.1:n.685-2169C>A
NM_001230.5:c.685-2169C>A	NP_001221.2:n.685-2169C>A
NM_032974.5:c.746C>A	NP_116756.2:p.Pro249Gln
NM_032977.4:c.746C>A MANE Select	NP_116759.2:p.Pro249Gln
NM_032976.4:c.721+2140C>A	NP_116758.1:n.721+2140C>A