Canonical Allele Identifier: CA350292980

Gene: CASP10

Linked Data

• dbSNP Id: rs1945326479
• gnomAD v3: 2-201209490-C-A
• gnomAD v4: 2-201209490-C-A
• MyVariant Identifiers: chr2:g.202074213C>A (hg19) ; chr2:g.201209490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209490C>A , CM000664.2:g.201209490C>A	GRCh38
NC_000002.11:g.202074213C>A , CM000664.1:g.202074213C>A	GRCh37
NC_000002.10:g.201782458C>A	NCBI36
NG_007265.1:g.31359C>A , LRG_33:g.31359C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1142C>A	ENSP00000314599.7:p.Ser381Tyr
ENST00000346817.10:c.1214C>A	ENSP00000237865.7:p.Ser405Tyr
ENST00000438843.6:c.*800C>A	ENSP00000401914.1:n.*800C>A
ENST00000492363.6:c.*429C>A	ENSP00000512459.1:n.*429C>A
ENST00000696199.1:c.721+5724C>A	ENSP00000512481.1:n.721+5724C>A
ENST00000286186.11:c.1343C>A MANE Select	ENSP00000286186.6:p.Ser448Tyr
ENST00000272879.9:c.1343C>A	ENSP00000272879.5:p.Ser448Tyr
ENST00000286186.10:c.1343C>A	ENSP00000286186.6:p.Ser448Tyr
ENST00000313728.11:c.1142C>A	ENSP00000314599.7:p.Ser381Tyr
ENST00000346817.9:c.1214C>A	ENSP00000237865.7:p.Ser405Tyr
ENST00000360132.7:c.*429C>A	ENSP00000353250.3:n.*429C>A
ENST00000448480.1:c.1214C>A	ENSP00000396835.1:p.Ser405Tyr
ENST00000492363.5:n.1251C>A
NM_001206524.1:c.1142C>A	NP_001193453.1:p.Ser381Tyr
NM_001206542.1:c.1214C>A	NP_001193471.1:p.Ser405Tyr
NM_001230.4:c.1214C>A	NP_001221.2:p.Ser405Tyr
NM_032974.4:c.1343C>A	NP_116756.2:p.Ser448Tyr
NM_032976.3:c.*429C>A	NP_116758.1:n.*429C>A
NM_032977.3:c.1343C>A , LRG_33t1:c.1343C>A	NP_116759.2:p.Ser448Tyr
XM_005246907.2:c.1340C>A	XP_005246964.1:p.Ser447Tyr
XM_006712796.2:c.593C>A	XP_006712859.1:p.Ser198Tyr
XM_006712796.3:c.593C>A	XP_006712859.1:p.Ser198Tyr
NM_001206524.2:c.1142C>A	NP_001193453.1:p.Ser381Tyr
NM_001206542.2:c.1214C>A	NP_001193471.1:p.Ser405Tyr
NM_001230.5:c.1214C>A	NP_001221.2:p.Ser405Tyr
NM_032974.5:c.1343C>A	NP_116756.2:p.Ser448Tyr
NM_032977.4:c.1343C>A MANE Select	NP_116759.2:p.Ser448Tyr
NM_032976.4:c.*429C>A	NP_116758.1:n.*429C>A