Canonical Allele Identifier: CA342419

Gene: CASP10

Linked Data

• ClinVar Variation Id: 21728
• ClinVar RCV Id: RCV000020931 ; RCV001668132
• dbSNP Id: rs17860405
• ExAC: 2:202074207 A / G
• gnomAD v2: 2-202074207-A-G
• gnomAD v3: 2-201209484-A-G
• gnomAD v4: 2-201209484-A-G
• MyVariant Identifiers: chr2:g.202074207A>G (hg19) ; chr2:g.201209484A>G (hg38)
• PubMed: PMID:16446975 ; PMID:20301287

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209484A>G , CM000664.2:g.201209484A>G	GRCh38
NC_000002.11:g.202074207A>G , CM000664.1:g.202074207A>G	GRCh37
NC_000002.10:g.201782452A>G	NCBI36
NG_007265.1:g.31353A>G , LRG_33:g.31353A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1136A>G	ENSP00000314599.7:p.Tyr379Cys
ENST00000346817.10:c.1208A>G	ENSP00000237865.7:p.Tyr403Cys
ENST00000438843.6:c.*794A>G	ENSP00000401914.1:n.*794A>G
ENST00000492363.6:c.*423A>G	ENSP00000512459.1:n.*423A>G
ENST00000696199.1:c.721+5718A>G	ENSP00000512481.1:n.721+5718A>G
ENST00000286186.11:c.1337A>G MANE Select	ENSP00000286186.6:p.Tyr446Cys
ENST00000272879.9:c.1337A>G	ENSP00000272879.5:p.Tyr446Cys
ENST00000286186.10:c.1337A>G	ENSP00000286186.6:p.Tyr446Cys
ENST00000313728.11:c.1136A>G	ENSP00000314599.7:p.Tyr379Cys
ENST00000346817.9:c.1208A>G	ENSP00000237865.7:p.Tyr403Cys
ENST00000360132.7:c.*423A>G	ENSP00000353250.3:n.*423A>G
ENST00000448480.1:c.1208A>G	ENSP00000396835.1:p.Tyr403Cys
ENST00000492363.5:n.1245A>G
NM_001206524.1:c.1136A>G	NP_001193453.1:p.Tyr379Cys
NM_001206542.1:c.1208A>G	NP_001193471.1:p.Tyr403Cys
NM_001230.4:c.1208A>G	NP_001221.2:p.Tyr403Cys
NM_032974.4:c.1337A>G	NP_116756.2:p.Tyr446Cys
NM_032976.3:c.*423A>G	NP_116758.1:n.*423A>G
NM_032977.3:c.1337A>G , LRG_33t1:c.1337A>G	NP_116759.2:p.Tyr446Cys
XM_005246907.2:c.1334A>G	XP_005246964.1:p.Tyr445Cys
XM_006712796.2:c.587A>G	XP_006712859.1:p.Tyr196Cys
XM_006712796.3:c.587A>G	XP_006712859.1:p.Tyr196Cys
NM_001206524.2:c.1136A>G	NP_001193453.1:p.Tyr379Cys
NM_001206542.2:c.1208A>G	NP_001193471.1:p.Tyr403Cys
NM_001230.5:c.1208A>G	NP_001221.2:p.Tyr403Cys
NM_032974.5:c.1337A>G	NP_116756.2:p.Tyr446Cys
NM_032977.4:c.1337A>G MANE Select	NP_116759.2:p.Tyr446Cys
NM_032976.4:c.*423A>G	NP_116758.1:n.*423A>G