Canonical Allele Identifier: CA350284309

Gene: CASP10

Linked Data

• gnomAD v4: 2-201205950-C-G
• MyVariant Identifiers: chr2:g.202070673C>G (hg19) ; chr2:g.201205950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201205950C>G , CM000664.2:g.201205950C>G	GRCh38
NC_000002.11:g.202070673C>G , CM000664.1:g.202070673C>G	GRCh37
NC_000002.10:g.201778918C>G	NCBI36
NG_007265.1:g.27819C>G , LRG_33:g.27819C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.721+2184C>G	ENSP00000314599.7:n.721+2184C>G
ENST00000346817.10:c.685-2125C>G	ENSP00000237865.7:n.685-2125C>G
ENST00000438843.6:c.*271-2125C>G	ENSP00000401914.1:n.*271-2125C>G
ENST00000492363.6:c.722-2125C>G	ENSP00000512459.1:n.722-2125C>G
ENST00000696199.1:c.721+2184C>G	ENSP00000512481.1:n.721+2184C>G
ENST00000286186.11:c.790C>G MANE Select	ENSP00000286186.6:p.Leu264Val
ENST00000272879.9:c.790C>G	ENSP00000272879.5:p.Leu264Val
ENST00000286186.10:c.790C>G	ENSP00000286186.6:p.Leu264Val
ENST00000313728.11:c.721+2184C>G	ENSP00000314599.7:n.721+2184C>G
ENST00000346817.9:c.685-2125C>G	ENSP00000237865.7:n.685-2125C>G
ENST00000360132.7:c.722-2125C>G	ENSP00000353250.3:n.722-2125C>G
ENST00000438843.5:c.*271-2125C>G	ENSP00000401914.1:n.*271-2125C>G
ENST00000448480.1:c.685-2125C>G	ENSP00000396835.1:n.685-2125C>G
ENST00000460140.5:n.994C>G
ENST00000492363.5:n.722-2125C>G
NM_001206524.1:c.721+2184C>G	NP_001193453.1:n.721+2184C>G
NM_001206542.1:c.685-2125C>G	NP_001193471.1:n.685-2125C>G
NM_001230.4:c.685-2125C>G	NP_001221.2:n.685-2125C>G
NM_032974.4:c.790C>G	NP_116756.2:p.Leu264Val
NM_032976.3:c.722-2125C>G	NP_116758.1:n.722-2125C>G
NM_032977.3:c.790C>G , LRG_33t1:c.790C>G	NP_116759.2:p.Leu264Val
XM_005246907.2:c.787C>G	XP_005246964.1:p.Leu263Val
XM_006712796.2:c.64-2125C>G	XP_006712859.1:n.64-2125C>G
XM_011511990.1:c.719-2125C>G	XP_011510292.1:n.719-2125C>G
XR_923043.1:n.994C>G
XR_923044.1:n.926-2125C>G
XM_006712796.3:c.64-2125C>G	XP_006712859.1:n.64-2125C>G
XM_011511990.2:c.719-2125C>G	XP_011510292.1:n.719-2125C>G
XR_923043.2:n.994C>G
XR_923044.2:n.926-2125C>G
NM_001206524.2:c.721+2184C>G	NP_001193453.1:n.721+2184C>G
NM_001206542.2:c.685-2125C>G	NP_001193471.1:n.685-2125C>G
NM_001230.5:c.685-2125C>G	NP_001221.2:n.685-2125C>G
NM_032974.5:c.790C>G	NP_116756.2:p.Leu264Val
NM_032977.4:c.790C>G MANE Select	NP_116759.2:p.Leu264Val
NM_032976.4:c.722-2125C>G	NP_116758.1:n.722-2125C>G