Canonical Allele Identifier: CA350285961

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202072807G>C (hg19) ; chr2:g.201208084G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208084G>C , CM000664.2:g.201208084G>C	GRCh38
NC_000002.11:g.202072807G>C , CM000664.1:g.202072807G>C	GRCh37
NC_000002.10:g.201781052G>C	NCBI36
NG_007265.1:g.29953G>C , LRG_33:g.29953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-986G>C	ENSP00000314599.7:n.722-986G>C
ENST00000346817.10:c.694G>C	ENSP00000237865.7:p.Val232Leu
ENST00000438843.6:c.*280G>C	ENSP00000401914.1:n.*280G>C
ENST00000492363.6:c.731G>C	ENSP00000512459.1:p.Cys244Ser
ENST00000696199.1:c.721+4318G>C	ENSP00000512481.1:n.721+4318G>C
ENST00000286186.11:c.823G>C MANE Select	ENSP00000286186.6:p.Val275Leu
ENST00000272879.9:c.823G>C	ENSP00000272879.5:p.Val275Leu
ENST00000286186.10:c.823G>C	ENSP00000286186.6:p.Val275Leu
ENST00000313728.11:c.722-986G>C	ENSP00000314599.7:n.722-986G>C
ENST00000346817.9:c.694G>C	ENSP00000237865.7:p.Val232Leu
ENST00000360132.7:c.731G>C	ENSP00000353250.3:p.Cys244Ser
ENST00000438843.5:c.*280G>C	ENSP00000401914.1:n.*280G>C
ENST00000448480.1:c.694G>C	ENSP00000396835.1:p.Val232Leu
ENST00000492363.5:n.731G>C
NM_001206524.1:c.722-986G>C	NP_001193453.1:n.722-986G>C
NM_001206542.1:c.694G>C	NP_001193471.1:p.Val232Leu
NM_001230.4:c.694G>C	NP_001221.2:p.Val232Leu
NM_032974.4:c.823G>C	NP_116756.2:p.Val275Leu
NM_032976.3:c.731G>C	NP_116758.1:p.Cys244Ser
NM_032977.3:c.823G>C , LRG_33t1:c.823G>C	NP_116759.2:p.Val275Leu
XM_005246907.2:c.820G>C	XP_005246964.1:p.Val274Leu
XM_006712796.2:c.73G>C	XP_006712859.1:p.Val25Leu
XM_011511990.1:c.728G>C	XP_011510292.1:p.Cys243Ser
XR_923043.1:n.1027G>C
XR_923044.1:n.935G>C
XM_006712796.3:c.73G>C	XP_006712859.1:p.Val25Leu
XM_011511990.2:c.728G>C	XP_011510292.1:p.Cys243Ser
XR_923043.2:n.1027G>C
XR_923044.2:n.935G>C
NM_001206524.2:c.722-986G>C	NP_001193453.1:n.722-986G>C
NM_001206542.2:c.694G>C	NP_001193471.1:p.Val232Leu
NM_001230.5:c.694G>C	NP_001221.2:p.Val232Leu
NM_032974.5:c.823G>C	NP_116756.2:p.Val275Leu
NM_032977.4:c.823G>C MANE Select	NP_116759.2:p.Val275Leu
NM_032976.4:c.731G>C	NP_116758.1:p.Cys244Ser