Canonical Allele Identifier: CA119059

Gene: CASP10

Linked Data

• ClinVar Variation Id: 7766
• ClinVar RCV Id: RCV000008207
• dbSNP Id: rs121909775
• MyVariant Identifiers: chr2:g.202070652C>T (hg19) ; chr2:g.201205929C>T (hg38)
• PubMed: PMID:11973654 ; PMID:12010812

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201205929C>T , CM000664.2:g.201205929C>T	GRCh38
NC_000002.11:g.202070652C>T , CM000664.1:g.202070652C>T	GRCh37
NC_000002.10:g.201778897C>T	NCBI36
NG_007265.1:g.27798C>T , LRG_33:g.27798C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313728.12:c.721+2163C>T	ENSP00000314599.7:n.721+2163C>T
ENST00000346817.10:c.685-2146C>T	ENSP00000237865.7:n.685-2146C>T
ENST00000438843.6:c.*271-2146C>T	ENSP00000401914.1:n.*271-2146C>T
ENST00000492363.6:c.722-2146C>T	ENSP00000512459.1:n.722-2146C>T
ENST00000696199.1:c.721+2163C>T	ENSP00000512481.1:n.721+2163C>T
ENST00000286186.11:c.769C>T MANE Select	ENSP00000286186.6:p.Gln257Ter
ENST00000272879.9:c.769C>T	ENSP00000272879.5:p.Gln257Ter
ENST00000286186.10:c.769C>T	ENSP00000286186.6:p.Gln257Ter
ENST00000313728.11:c.721+2163C>T	ENSP00000314599.7:n.721+2163C>T
ENST00000346817.9:c.685-2146C>T	ENSP00000237865.7:n.685-2146C>T
ENST00000360132.7:c.722-2146C>T	ENSP00000353250.3:n.722-2146C>T
ENST00000438843.5:c.*271-2146C>T	ENSP00000401914.1:n.*271-2146C>T
ENST00000448480.1:c.685-2146C>T	ENSP00000396835.1:n.685-2146C>T
ENST00000460140.5:n.973C>T
ENST00000492363.5:n.722-2146C>T
NM_001206524.1:c.721+2163C>T	NP_001193453.1:n.721+2163C>T
NM_001206542.1:c.685-2146C>T	NP_001193471.1:n.685-2146C>T
NM_001230.4:c.685-2146C>T	NP_001221.2:n.685-2146C>T
NM_032974.4:c.769C>T	NP_116756.2:p.Gln257Ter
NM_032976.3:c.722-2146C>T	NP_116758.1:n.722-2146C>T
NM_032977.3:c.769C>T , LRG_33t1:c.769C>T	NP_116759.2:p.Gln257Ter
XM_005246907.2:c.766C>T	XP_005246964.1:p.Gln256Ter
XM_006712796.2:c.64-2146C>T	XP_006712859.1:n.64-2146C>T
XM_011511990.1:c.719-2146C>T	XP_011510292.1:n.719-2146C>T
XR_923043.1:n.973C>T
XR_923044.1:n.926-2146C>T
XM_006712796.3:c.64-2146C>T	XP_006712859.1:n.64-2146C>T
XM_011511990.2:c.719-2146C>T	XP_011510292.1:n.719-2146C>T
XR_923043.2:n.973C>T
XR_923044.2:n.926-2146C>T
NM_001206524.2:c.721+2163C>T	NP_001193453.1:n.721+2163C>T
NM_001206542.2:c.685-2146C>T	NP_001193471.1:n.685-2146C>T
NM_001230.5:c.685-2146C>T	NP_001221.2:n.685-2146C>T
NM_032974.5:c.769C>T	NP_116756.2:p.Gln257Ter
NM_032977.4:c.769C>T MANE Select	NP_116759.2:p.Gln257Ter
NM_032976.4:c.722-2146C>T	NP_116758.1:n.722-2146C>T