Canonical Allele Identifier: CA2053229

Gene: CASP10

Linked Data

• ClinVar Variation Id: 1494185
• ClinVar RCV Id: RCV001987054
• dbSNP Id: rs757598550
• ExAC: 2:202074225 T / C
• gnomAD v2: 2-202074225-T-C
• gnomAD v4: 2-201209502-T-C
• MyVariant Identifiers: chr2:g.202074225T>C (hg19) ; chr2:g.201209502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209502T>C , CM000664.2:g.201209502T>C	GRCh38
NC_000002.11:g.202074225T>C , CM000664.1:g.202074225T>C	GRCh37
NC_000002.10:g.201782470T>C	NCBI36
NG_007265.1:g.31371T>C , LRG_33:g.31371T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313728.12:c.1154T>C	ENSP00000314599.7:p.Val385Ala
ENST00000346817.10:c.1226T>C	ENSP00000237865.7:p.Val409Ala
ENST00000438843.6:c.*812T>C	ENSP00000401914.1:n.*812T>C
ENST00000492363.6:c.*441T>C	ENSP00000512459.1:n.*441T>C
ENST00000696199.1:c.721+5736T>C	ENSP00000512481.1:n.721+5736T>C
ENST00000286186.11:c.1355T>C MANE Select	ENSP00000286186.6:p.Val452Ala
ENST00000272879.9:c.1355T>C	ENSP00000272879.5:p.Val452Ala
ENST00000286186.10:c.1355T>C	ENSP00000286186.6:p.Val452Ala
ENST00000313728.11:c.1154T>C	ENSP00000314599.7:p.Val385Ala
ENST00000346817.9:c.1226T>C	ENSP00000237865.7:p.Val409Ala
ENST00000360132.7:c.*441T>C	ENSP00000353250.3:n.*441T>C
ENST00000448480.1:c.1226T>C	ENSP00000396835.1:p.Val409Ala
ENST00000492363.5:n.1263T>C
NM_001206524.1:c.1154T>C	NP_001193453.1:p.Val385Ala
NM_001206542.1:c.1226T>C	NP_001193471.1:p.Val409Ala
NM_001230.4:c.1226T>C	NP_001221.2:p.Val409Ala
NM_032974.4:c.1355T>C	NP_116756.2:p.Val452Ala
NM_032976.3:c.*441T>C	NP_116758.1:n.*441T>C
NM_032977.3:c.1355T>C , LRG_33t1:c.1355T>C	NP_116759.2:p.Val452Ala
XM_005246907.2:c.1352T>C	XP_005246964.1:p.Val451Ala
XM_006712796.2:c.605T>C	XP_006712859.1:p.Val202Ala
XM_006712796.3:c.605T>C	XP_006712859.1:p.Val202Ala
NM_001206524.2:c.1154T>C	NP_001193453.1:p.Val385Ala
NM_001206542.2:c.1226T>C	NP_001193471.1:p.Val409Ala
NM_001230.5:c.1226T>C	NP_001221.2:p.Val409Ala
NM_032974.5:c.1355T>C	NP_116756.2:p.Val452Ala
NM_032977.4:c.1355T>C MANE Select	NP_116759.2:p.Val452Ala
NM_032976.4:c.*441T>C	NP_116758.1:n.*441T>C