Canonical Allele Identifier: CA2053095

Gene: CASP10

Linked Data

• dbSNP Id: rs774173689
• ExAC: 2:202072900 G / C
• gnomAD v2: 2-202072900-G-C
• MyVariant Identifiers: chr2:g.202072900G>C (hg19) ; chr2:g.201208177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208177G>C , CM000664.2:g.201208177G>C	GRCh38
NC_000002.11:g.202072900G>C , CM000664.1:g.202072900G>C	GRCh37
NC_000002.10:g.201781145G>C	NCBI36
NG_007265.1:g.30046G>C , LRG_33:g.30046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-893G>C	ENSP00000314599.7:n.722-893G>C
ENST00000346817.10:c.787G>C	ENSP00000237865.7:p.Asp263His
ENST00000438843.6:c.*373G>C	ENSP00000401914.1:n.*373G>C
ENST00000492363.6:c.*2G>C	ENSP00000512459.1:n.*2G>C
ENST00000696199.1:c.721+4411G>C	ENSP00000512481.1:n.721+4411G>C
ENST00000286186.11:c.916G>C MANE Select	ENSP00000286186.6:p.Asp306His
ENST00000272879.9:c.916G>C	ENSP00000272879.5:p.Asp306His
ENST00000286186.10:c.916G>C	ENSP00000286186.6:p.Asp306His
ENST00000313728.11:c.722-893G>C	ENSP00000314599.7:n.722-893G>C
ENST00000346817.9:c.787G>C	ENSP00000237865.7:p.Asp263His
ENST00000360132.7:c.*2G>C	ENSP00000353250.3:n.*2G>C
ENST00000448480.1:c.787G>C	ENSP00000396835.1:p.Asp263His
ENST00000492363.5:n.824G>C
NM_001206524.1:c.722-893G>C	NP_001193453.1:n.722-893G>C
NM_001206542.1:c.787G>C	NP_001193471.1:p.Asp263His
NM_001230.4:c.787G>C	NP_001221.2:p.Asp263His
NM_032974.4:c.916G>C	NP_116756.2:p.Asp306His
NM_032976.3:c.*2G>C	NP_116758.1:n.*2G>C
NM_032977.3:c.916G>C , LRG_33t1:c.916G>C	NP_116759.2:p.Asp306His
XM_005246907.2:c.913G>C	XP_005246964.1:p.Asp305His
XM_006712796.2:c.166G>C	XP_006712859.1:p.Asp56His
XM_011511990.1:c.*2G>C	XP_011510292.1:n.*2G>C
XR_923043.1:n.1120G>C
XR_923044.1:n.1028G>C
XM_006712796.3:c.166G>C	XP_006712859.1:p.Asp56His
XM_011511990.2:c.*2G>C	XP_011510292.1:n.*2G>C
XR_923043.2:n.1120G>C
XR_923044.2:n.1028G>C
NM_001206524.2:c.722-893G>C	NP_001193453.1:n.722-893G>C
NM_001206542.2:c.787G>C	NP_001193471.1:p.Asp263His
NM_001230.5:c.787G>C	NP_001221.2:p.Asp263His
NM_032974.5:c.916G>C	NP_116756.2:p.Asp306His
NM_032977.4:c.916G>C MANE Select	NP_116759.2:p.Asp306His
NM_032976.4:c.*2G>C	NP_116758.1:n.*2G>C