Canonical Allele Identifier: CA350286131

Gene: CASP10

Linked Data

• ClinVar Variation Id: 961874
• ClinVar RCV Id: RCV001796859 ; RCV003426007
• dbSNP Id: rs1351292534
• gnomAD v2: 2-202072822-C-T
• gnomAD v3: 2-201208099-C-T
• gnomAD v4: 2-201208099-C-T
• MyVariant Identifiers: chr2:g.202072822C>T (hg19) ; chr2:g.201208099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208099C>T , CM000664.2:g.201208099C>T	GRCh38
NC_000002.11:g.202072822C>T , CM000664.1:g.202072822C>T	GRCh37
NC_000002.10:g.201781067C>T	NCBI36
NG_007265.1:g.29968C>T , LRG_33:g.29968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-971C>T	ENSP00000314599.7:n.722-971C>T
ENST00000346817.10:c.709C>T	ENSP00000237865.7:p.Arg237Trp
ENST00000438843.6:c.*295C>T	ENSP00000401914.1:n.*295C>T
ENST00000492363.6:c.746C>T	ENSP00000512459.1:p.Ser249Leu
ENST00000696199.1:c.721+4333C>T	ENSP00000512481.1:n.721+4333C>T
ENST00000286186.11:c.838C>T MANE Select	ENSP00000286186.6:p.Arg280Trp
ENST00000272879.9:c.838C>T	ENSP00000272879.5:p.Arg280Trp
ENST00000286186.10:c.838C>T	ENSP00000286186.6:p.Arg280Trp
ENST00000313728.11:c.722-971C>T	ENSP00000314599.7:n.722-971C>T
ENST00000346817.9:c.709C>T	ENSP00000237865.7:p.Arg237Trp
ENST00000360132.7:c.746C>T	ENSP00000353250.3:p.Ser249Leu
ENST00000438843.5:c.*295C>T	ENSP00000401914.1:n.*295C>T
ENST00000448480.1:c.709C>T	ENSP00000396835.1:p.Arg237Trp
ENST00000492363.5:n.746C>T
NM_001206524.1:c.722-971C>T	NP_001193453.1:n.722-971C>T
NM_001206542.1:c.709C>T	NP_001193471.1:p.Arg237Trp
NM_001230.4:c.709C>T	NP_001221.2:p.Arg237Trp
NM_032974.4:c.838C>T	NP_116756.2:p.Arg280Trp
NM_032976.3:c.746C>T	NP_116758.1:p.Ser249Leu
NM_032977.3:c.838C>T , LRG_33t1:c.838C>T	NP_116759.2:p.Arg280Trp
XM_005246907.2:c.835C>T	XP_005246964.1:p.Arg279Trp
XM_006712796.2:c.88C>T	XP_006712859.1:p.Arg30Trp
XM_011511990.1:c.743C>T	XP_011510292.1:p.Ser248Leu
XR_923043.1:n.1042C>T
XR_923044.1:n.950C>T
XM_006712796.3:c.88C>T	XP_006712859.1:p.Arg30Trp
XM_011511990.2:c.743C>T	XP_011510292.1:p.Ser248Leu
XR_923043.2:n.1042C>T
XR_923044.2:n.950C>T
NM_001206524.2:c.722-971C>T	NP_001193453.1:n.722-971C>T
NM_001206542.2:c.709C>T	NP_001193471.1:p.Arg237Trp
NM_001230.5:c.709C>T	NP_001221.2:p.Arg237Trp
NM_032974.5:c.838C>T	NP_116756.2:p.Arg280Trp
NM_032977.4:c.838C>T MANE Select	NP_116759.2:p.Arg280Trp
NM_032976.4:c.746C>T	NP_116758.1:p.Ser249Leu