Canonical Allele Identifier: CA2053214

Gene: CASP10

Linked Data

• ClinVar Variation Id: 860550
• ClinVar RCV Id: RCV001796846
• dbSNP Id: rs762718326
• ExAC: 2:202074158 A / T
• gnomAD v2: 2-202074158-A-T
• gnomAD v3: 2-201209435-A-T
• gnomAD v4: 2-201209435-A-T
• MyVariant Identifiers: chr2:g.202074158A>T (hg19) ; chr2:g.201209435A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209435A>T , CM000664.2:g.201209435A>T	GRCh38
NC_000002.11:g.202074158A>T , CM000664.1:g.202074158A>T	GRCh37
NC_000002.10:g.201782403A>T	NCBI36
NG_007265.1:g.31304A>T , LRG_33:g.31304A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1087A>T	ENSP00000314599.7:p.Ile363Phe
ENST00000346817.10:c.1159A>T	ENSP00000237865.7:p.Ile387Phe
ENST00000438843.6:c.*745A>T	ENSP00000401914.1:n.*745A>T
ENST00000492363.6:c.*374A>T	ENSP00000512459.1:n.*374A>T
ENST00000696199.1:c.721+5669A>T	ENSP00000512481.1:n.721+5669A>T
ENST00000286186.11:c.1288A>T MANE Select	ENSP00000286186.6:p.Ile430Phe
ENST00000272879.9:c.1288A>T	ENSP00000272879.5:p.Ile430Phe
ENST00000286186.10:c.1288A>T	ENSP00000286186.6:p.Ile430Phe
ENST00000313728.11:c.1087A>T	ENSP00000314599.7:p.Ile363Phe
ENST00000346817.9:c.1159A>T	ENSP00000237865.7:p.Ile387Phe
ENST00000360132.7:c.*374A>T	ENSP00000353250.3:n.*374A>T
ENST00000448480.1:c.1159A>T	ENSP00000396835.1:p.Ile387Phe
ENST00000492363.5:n.1196A>T
NM_001206524.1:c.1087A>T	NP_001193453.1:p.Ile363Phe
NM_001206542.1:c.1159A>T	NP_001193471.1:p.Ile387Phe
NM_001230.4:c.1159A>T	NP_001221.2:p.Ile387Phe
NM_032974.4:c.1288A>T	NP_116756.2:p.Ile430Phe
NM_032976.3:c.*374A>T	NP_116758.1:n.*374A>T
NM_032977.3:c.1288A>T , LRG_33t1:c.1288A>T	NP_116759.2:p.Ile430Phe
XM_005246907.2:c.1285A>T	XP_005246964.1:p.Ile429Phe
XM_006712796.2:c.538A>T	XP_006712859.1:p.Ile180Phe
XM_006712796.3:c.538A>T	XP_006712859.1:p.Ile180Phe
NM_001206524.2:c.1087A>T	NP_001193453.1:p.Ile363Phe
NM_001206542.2:c.1159A>T	NP_001193471.1:p.Ile387Phe
NM_001230.5:c.1159A>T	NP_001221.2:p.Ile387Phe
NM_032974.5:c.1288A>T	NP_116756.2:p.Ile430Phe
NM_032977.4:c.1288A>T MANE Select	NP_116759.2:p.Ile430Phe
NM_032976.4:c.*374A>T	NP_116758.1:n.*374A>T