Canonical Allele Identifier: CA350285879

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202072798A>C (hg19) ; chr2:g.201208075A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208075A>C , CM000664.2:g.201208075A>C	GRCh38
NC_000002.11:g.202072798A>C , CM000664.1:g.202072798A>C	GRCh37
NC_000002.10:g.201781043A>C	NCBI36
NG_007265.1:g.29944A>C , LRG_33:g.29944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-995A>C	ENSP00000314599.7:n.722-995A>C
ENST00000346817.10:c.685A>C	ENSP00000237865.7:p.Arg229=
ENST00000438843.6:c.*271A>C	ENSP00000401914.1:n.*271A>C
ENST00000492363.6:c.722A>C	ENSP00000512459.1:p.Glu241Ala
ENST00000696199.1:c.721+4309A>C	ENSP00000512481.1:n.721+4309A>C
ENST00000286186.11:c.814A>C MANE Select	ENSP00000286186.6:p.Arg272=
ENST00000272879.9:c.814A>C	ENSP00000272879.5:p.Arg272=
ENST00000286186.10:c.814A>C	ENSP00000286186.6:p.Arg272=
ENST00000313728.11:c.722-995A>C	ENSP00000314599.7:n.722-995A>C
ENST00000346817.9:c.685A>C	ENSP00000237865.7:p.Arg229=
ENST00000360132.7:c.722A>C	ENSP00000353250.3:p.Glu241Ala
ENST00000438843.5:c.*271A>C	ENSP00000401914.1:n.*271A>C
ENST00000448480.1:c.685A>C	ENSP00000396835.1:p.Arg229=
ENST00000492363.5:n.722A>C
NM_001206524.1:c.722-995A>C	NP_001193453.1:n.722-995A>C
NM_001206542.1:c.685A>C	NP_001193471.1:p.Arg229=
NM_001230.4:c.685A>C	NP_001221.2:p.Arg229=
NM_032974.4:c.814A>C	NP_116756.2:p.Arg272=
NM_032976.3:c.722A>C	NP_116758.1:p.Glu241Ala
NM_032977.3:c.814A>C , LRG_33t1:c.814A>C	NP_116759.2:p.Arg272=
XM_005246907.2:c.811A>C	XP_005246964.1:p.Arg271=
XM_006712796.2:c.64A>C	XP_006712859.1:p.Arg22=
XM_011511990.1:c.719A>C	XP_011510292.1:p.Glu240Ala
XR_923043.1:n.1018A>C
XR_923044.1:n.926A>C
XM_006712796.3:c.64A>C	XP_006712859.1:p.Arg22=
XM_011511990.2:c.719A>C	XP_011510292.1:p.Glu240Ala
XR_923043.2:n.1018A>C
XR_923044.2:n.926A>C
NM_001206524.2:c.722-995A>C	NP_001193453.1:n.722-995A>C
NM_001206542.2:c.685A>C	NP_001193471.1:p.Arg229=
NM_001230.5:c.685A>C	NP_001221.2:p.Arg229=
NM_032974.5:c.814A>C	NP_116756.2:p.Arg272=
NM_032977.4:c.814A>C MANE Select	NP_116759.2:p.Arg272=
NM_032976.4:c.722A>C	NP_116758.1:p.Glu241Ala