Canonical Allele Identifier: CA350286713

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202072875G>T (hg19) ; chr2:g.201208152G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208152G>T , CM000664.2:g.201208152G>T	GRCh38
NC_000002.11:g.202072875G>T , CM000664.1:g.202072875G>T	GRCh37
NC_000002.10:g.201781120G>T	NCBI36
NG_007265.1:g.30021G>T , LRG_33:g.30021G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-918G>T	ENSP00000314599.7:n.722-918G>T
ENST00000346817.10:c.762G>T	ENSP00000237865.7:p.Leu254=
ENST00000438843.6:c.*348G>T	ENSP00000401914.1:n.*348G>T
ENST00000492363.6:c.799G>T	ENSP00000512459.1:p.Glu267Ter
ENST00000696199.1:c.721+4386G>T	ENSP00000512481.1:n.721+4386G>T
ENST00000286186.11:c.891G>T MANE Select	ENSP00000286186.6:p.Leu297=
ENST00000272879.9:c.891G>T	ENSP00000272879.5:p.Leu297=
ENST00000286186.10:c.891G>T	ENSP00000286186.6:p.Leu297=
ENST00000313728.11:c.722-918G>T	ENSP00000314599.7:n.722-918G>T
ENST00000346817.9:c.762G>T	ENSP00000237865.7:p.Leu254=
ENST00000360132.7:c.799G>T	ENSP00000353250.3:p.Glu267Ter
ENST00000438843.5:c.*348G>T	ENSP00000401914.1:n.*348G>T
ENST00000448480.1:c.762G>T	ENSP00000396835.1:p.Leu254=
ENST00000492363.5:n.799G>T
NM_001206524.1:c.722-918G>T	NP_001193453.1:n.722-918G>T
NM_001206542.1:c.762G>T	NP_001193471.1:p.Leu254=
NM_001230.4:c.762G>T	NP_001221.2:p.Leu254=
NM_032974.4:c.891G>T	NP_116756.2:p.Leu297=
NM_032976.3:c.799G>T	NP_116758.1:p.Glu267Ter
NM_032977.3:c.891G>T , LRG_33t1:c.891G>T	NP_116759.2:p.Leu297=
XM_005246907.2:c.888G>T	XP_005246964.1:p.Leu296=
XM_006712796.2:c.141G>T	XP_006712859.1:p.Leu47=
XM_011511990.1:c.796G>T	XP_011510292.1:p.Glu266Ter
XR_923043.1:n.1095G>T
XR_923044.1:n.1003G>T
XM_006712796.3:c.141G>T	XP_006712859.1:p.Leu47=
XM_011511990.2:c.796G>T	XP_011510292.1:p.Glu266Ter
XR_923043.2:n.1095G>T
XR_923044.2:n.1003G>T
NM_001206524.2:c.722-918G>T	NP_001193453.1:n.722-918G>T
NM_001206542.2:c.762G>T	NP_001193471.1:p.Leu254=
NM_001230.5:c.762G>T	NP_001221.2:p.Leu254=
NM_032974.5:c.891G>T	NP_116756.2:p.Leu297=
NM_032977.4:c.891G>T MANE Select	NP_116759.2:p.Leu297=
NM_032976.4:c.799G>T	NP_116758.1:p.Glu267Ter