Canonical Allele Identifier: CA350284447

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202070689G>C (hg19) ; chr2:g.201205966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201205966G>C , CM000664.2:g.201205966G>C	GRCh38
NC_000002.11:g.202070689G>C , CM000664.1:g.202070689G>C	GRCh37
NC_000002.10:g.201778934G>C	NCBI36
NG_007265.1:g.27835G>C , LRG_33:g.27835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.721+2200G>C	ENSP00000314599.7:n.721+2200G>C
ENST00000346817.10:c.685-2109G>C	ENSP00000237865.7:n.685-2109G>C
ENST00000438843.6:c.*271-2109G>C	ENSP00000401914.1:n.*271-2109G>C
ENST00000492363.6:c.722-2109G>C	ENSP00000512459.1:n.722-2109G>C
ENST00000696199.1:c.721+2200G>C	ENSP00000512481.1:n.721+2200G>C
ENST00000286186.11:c.806G>C MANE Select	ENSP00000286186.6:p.Ser269Thr
ENST00000272879.9:c.806G>C	ENSP00000272879.5:p.Ser269Thr
ENST00000286186.10:c.806G>C	ENSP00000286186.6:p.Ser269Thr
ENST00000313728.11:c.721+2200G>C	ENSP00000314599.7:n.721+2200G>C
ENST00000346817.9:c.685-2109G>C	ENSP00000237865.7:n.685-2109G>C
ENST00000360132.7:c.722-2109G>C	ENSP00000353250.3:n.722-2109G>C
ENST00000438843.5:c.*271-2109G>C	ENSP00000401914.1:n.*271-2109G>C
ENST00000448480.1:c.685-2109G>C	ENSP00000396835.1:n.685-2109G>C
ENST00000460140.5:n.1010G>C
ENST00000492363.5:n.722-2109G>C
NM_001206524.1:c.721+2200G>C	NP_001193453.1:n.721+2200G>C
NM_001206542.1:c.685-2109G>C	NP_001193471.1:n.685-2109G>C
NM_001230.4:c.685-2109G>C	NP_001221.2:n.685-2109G>C
NM_032974.4:c.806G>C	NP_116756.2:p.Ser269Thr
NM_032976.3:c.722-2109G>C	NP_116758.1:n.722-2109G>C
NM_032977.3:c.806G>C , LRG_33t1:c.806G>C	NP_116759.2:p.Ser269Thr
XM_005246907.2:c.803G>C	XP_005246964.1:p.Ser268Thr
XM_006712796.2:c.64-2109G>C	XP_006712859.1:n.64-2109G>C
XM_011511990.1:c.719-2109G>C	XP_011510292.1:n.719-2109G>C
XR_923043.1:n.1010G>C
XR_923044.1:n.926-2109G>C
XM_006712796.3:c.64-2109G>C	XP_006712859.1:n.64-2109G>C
XM_011511990.2:c.719-2109G>C	XP_011510292.1:n.719-2109G>C
XR_923043.2:n.1010G>C
XR_923044.2:n.926-2109G>C
NM_001206524.2:c.721+2200G>C	NP_001193453.1:n.721+2200G>C
NM_001206542.2:c.685-2109G>C	NP_001193471.1:n.685-2109G>C
NM_001230.5:c.685-2109G>C	NP_001221.2:n.685-2109G>C
NM_032974.5:c.806G>C	NP_116756.2:p.Ser269Thr
NM_032977.4:c.806G>C MANE Select	NP_116759.2:p.Ser269Thr
NM_032976.4:c.722-2109G>C	NP_116758.1:n.722-2109G>C