Canonical Allele Identifier: CA2053097

Gene: CASP10

Linked Data

• ClinVar Variation Id: 1042593
• ClinVar RCV Id: RCV001529692 ; RCV001796882 ; RCV002486412
• dbSNP Id: rs559244194
• ExAC: 2:202072911 G / A
• gnomAD v2: 2-202072911-G-A
• gnomAD v3: 2-201208188-G-A
• gnomAD v4: 2-201208188-G-A
• MyVariant Identifiers: chr2:g.202072911G>A (hg19) ; chr2:g.201208188G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201208188G>A , CM000664.2:g.201208188G>A	GRCh38
NC_000002.11:g.202072911G>A , CM000664.1:g.202072911G>A	GRCh37
NC_000002.10:g.201781156G>A	NCBI36
NG_007265.1:g.30057G>A , LRG_33:g.30057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.722-882G>A	ENSP00000314599.7:n.722-882G>A
ENST00000346817.10:c.793+5G>A	ENSP00000237865.7:n.793+5G>A
ENST00000438843.6:c.*379+5G>A	ENSP00000401914.1:n.*379+5G>A
ENST00000492363.6:c.*8+5G>A	ENSP00000512459.1:n.*8+5G>A
ENST00000696199.1:c.721+4422G>A	ENSP00000512481.1:n.721+4422G>A
ENST00000286186.11:c.922+5G>A MANE Select	ENSP00000286186.6:n.922+5G>A
ENST00000272879.9:c.922+5G>A	ENSP00000272879.5:n.922+5G>A
ENST00000286186.10:c.922+5G>A	ENSP00000286186.6:n.922+5G>A
ENST00000313728.11:c.722-882G>A	ENSP00000314599.7:n.722-882G>A
ENST00000346817.9:c.793+5G>A	ENSP00000237865.7:n.793+5G>A
ENST00000360132.7:c.*8+5G>A	ENSP00000353250.3:n.*8+5G>A
ENST00000448480.1:c.793+5G>A	ENSP00000396835.1:n.793+5G>A
ENST00000492363.5:n.830+5G>A
NM_001206524.1:c.722-882G>A	NP_001193453.1:n.722-882G>A
NM_001206542.1:c.793+5G>A	NP_001193471.1:n.793+5G>A
NM_001230.4:c.793+5G>A	NP_001221.2:n.793+5G>A
NM_032974.4:c.922+5G>A	NP_116756.2:n.922+5G>A
NM_032976.3:c.*8+5G>A	NP_116758.1:n.*8+5G>A
NM_032977.3:c.922+5G>A , LRG_33t1:c.922+5G>A	NP_116759.2:n.922+5G>A
XM_005246907.2:c.919+5G>A	XP_005246964.1:n.919+5G>A
XM_006712796.2:c.172+5G>A	XP_006712859.1:n.172+5G>A
XM_011511990.1:c.*8+5G>A	XP_011510292.1:n.*8+5G>A
XR_923043.1:n.1126+5G>A
XR_923044.1:n.1034+5G>A
XM_006712796.3:c.172+5G>A	XP_006712859.1:n.172+5G>A
XM_011511990.2:c.*8+5G>A	XP_011510292.1:n.*8+5G>A
XR_923043.2:n.1126+5G>A
XR_923044.2:n.1034+5G>A
NM_001206524.2:c.722-882G>A	NP_001193453.1:n.722-882G>A
NM_001206542.2:c.793+5G>A	NP_001193471.1:n.793+5G>A
NM_001230.5:c.793+5G>A	NP_001221.2:n.793+5G>A
NM_032974.5:c.922+5G>A	NP_116756.2:n.922+5G>A
NM_032977.4:c.922+5G>A MANE Select	NP_116759.2:n.922+5G>A
NM_032976.4:c.*8+5G>A	NP_116758.1:n.*8+5G>A