Canonical Allele Identifier: CA350286655

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202072870T>G (hg19) ; chr2:g.201208147T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208147T>G , CM000664.2:g.201208147T>G	GRCh38
NC_000002.11:g.202072870T>G , CM000664.1:g.202072870T>G	GRCh37
NC_000002.10:g.201781115T>G	NCBI36
NG_007265.1:g.30016T>G , LRG_33:g.30016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-923T>G	ENSP00000314599.7:n.722-923T>G
ENST00000346817.10:c.757T>G	ENSP00000237865.7:p.Ser253Ala
ENST00000438843.6:c.*343T>G	ENSP00000401914.1:n.*343T>G
ENST00000492363.6:c.794T>G	ENSP00000512459.1:p.Leu265Arg
ENST00000696199.1:c.721+4381T>G	ENSP00000512481.1:n.721+4381T>G
ENST00000286186.11:c.886T>G MANE Select	ENSP00000286186.6:p.Ser296Ala
ENST00000272879.9:c.886T>G	ENSP00000272879.5:p.Ser296Ala
ENST00000286186.10:c.886T>G	ENSP00000286186.6:p.Ser296Ala
ENST00000313728.11:c.722-923T>G	ENSP00000314599.7:n.722-923T>G
ENST00000346817.9:c.757T>G	ENSP00000237865.7:p.Ser253Ala
ENST00000360132.7:c.794T>G	ENSP00000353250.3:p.Leu265Arg
ENST00000438843.5:c.*343T>G	ENSP00000401914.1:n.*343T>G
ENST00000448480.1:c.757T>G	ENSP00000396835.1:p.Ser253Ala
ENST00000492363.5:n.794T>G
NM_001206524.1:c.722-923T>G	NP_001193453.1:n.722-923T>G
NM_001206542.1:c.757T>G	NP_001193471.1:p.Ser253Ala
NM_001230.4:c.757T>G	NP_001221.2:p.Ser253Ala
NM_032974.4:c.886T>G	NP_116756.2:p.Ser296Ala
NM_032976.3:c.794T>G	NP_116758.1:p.Leu265Arg
NM_032977.3:c.886T>G , LRG_33t1:c.886T>G	NP_116759.2:p.Ser296Ala
XM_005246907.2:c.883T>G	XP_005246964.1:p.Ser295Ala
XM_006712796.2:c.136T>G	XP_006712859.1:p.Ser46Ala
XM_011511990.1:c.791T>G	XP_011510292.1:p.Leu264Arg
XR_923043.1:n.1090T>G
XR_923044.1:n.998T>G
XM_006712796.3:c.136T>G	XP_006712859.1:p.Ser46Ala
XM_011511990.2:c.791T>G	XP_011510292.1:p.Leu264Arg
XR_923043.2:n.1090T>G
XR_923044.2:n.998T>G
NM_001206524.2:c.722-923T>G	NP_001193453.1:n.722-923T>G
NM_001206542.2:c.757T>G	NP_001193471.1:p.Ser253Ala
NM_001230.5:c.757T>G	NP_001221.2:p.Ser253Ala
NM_032974.5:c.886T>G	NP_116756.2:p.Ser296Ala
NM_032977.4:c.886T>G MANE Select	NP_116759.2:p.Ser296Ala
NM_032976.4:c.794T>G	NP_116758.1:p.Leu265Arg