Canonical Allele Identifier: CA430610083
Gene: CASP10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.202070606T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201205883T>C , CM000664.2:g.201205883T>C GRCh38
NC_000002.11:g.202070606T>C , CM000664.1:g.202070606T>C GRCh37
NC_000002.10:g.201778851T>C NCBI36
NG_007265.1:g.27752T>C , LRG_33:g.27752T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313728.12:c.721+2117T>C ENSP00000314599.7:n.721+2117T>C
ENST00000346817.10:c.685-2192T>C ENSP00000237865.7:n.685-2192T>C
ENST00000438843.6:c.*270+2117T>C ENSP00000401914.1:n.*270+2117T>C
ENST00000492363.6:c.721+2117T>C ENSP00000512459.1:n.721+2117T>C
ENST00000696199.1:c.721+2117T>C ENSP00000512481.1:n.721+2117T>C
ENST00000286186.11:c.723T>C MANE Select ENSP00000286186.6:p.Gly241=
ENST00000272879.9:c.723T>C ENSP00000272879.5:p.Gly241=
ENST00000286186.10:c.723T>C ENSP00000286186.6:p.Gly241=
ENST00000313728.11:c.721+2117T>C ENSP00000314599.7:n.721+2117T>C
ENST00000346817.9:c.685-2192T>C ENSP00000237865.7:n.685-2192T>C
ENST00000360132.7:c.721+2117T>C ENSP00000353250.3:n.721+2117T>C
ENST00000438843.5:c.*270+2117T>C ENSP00000401914.1:n.*270+2117T>C
ENST00000448480.1:c.685-2192T>C ENSP00000396835.1:n.685-2192T>C
ENST00000460140.5:n.927T>C
ENST00000492363.5:n.721+2117T>C
NM_001206524.1:c.721+2117T>C NP_001193453.1:n.721+2117T>C
NM_001206542.1:c.685-2192T>C NP_001193471.1:n.685-2192T>C
NM_001230.4:c.685-2192T>C NP_001221.2:n.685-2192T>C
NM_032974.4:c.723T>C NP_116756.2:p.Gly241=
NM_032976.3:c.721+2117T>C NP_116758.1:n.721+2117T>C
NM_032977.3:c.723T>C , LRG_33t1:c.723T>C NP_116759.2:p.Gly241=
XM_005246907.2:c.720T>C XP_005246964.1:p.Gly240=
XM_006712796.2:c.63+2117T>C XP_006712859.1:n.63+2117T>C
XM_011511990.1:c.718+2117T>C XP_011510292.1:n.718+2117T>C
XR_923043.1:n.927T>C
XR_923044.1:n.925+2117T>C
XM_006712796.3:c.63+2117T>C XP_006712859.1:n.63+2117T>C
XM_011511990.2:c.718+2117T>C XP_011510292.1:n.718+2117T>C
XR_923043.2:n.927T>C
XR_923044.2:n.925+2117T>C
NM_001206524.2:c.721+2117T>C NP_001193453.1:n.721+2117T>C
NM_001206542.2:c.685-2192T>C NP_001193471.1:n.685-2192T>C
NM_001230.5:c.685-2192T>C NP_001221.2:n.685-2192T>C
NM_032974.5:c.723T>C NP_116756.2:p.Gly241=
NM_032977.4:c.723T>C MANE Select NP_116759.2:p.Gly241=
NM_032976.4:c.721+2117T>C NP_116758.1:n.721+2117T>C