Canonical Allele Identifier: CA350292294

Gene: CASP10

Linked Data

• MyVariant Identifiers: chr2:g.202074116G>A (hg19) ; chr2:g.201209393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201209393G>A , CM000664.2:g.201209393G>A	GRCh38
NC_000002.11:g.202074116G>A , CM000664.1:g.202074116G>A	GRCh37
NC_000002.10:g.201782361G>A	NCBI36
NG_007265.1:g.31262G>A , LRG_33:g.31262G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313728.12:c.1045G>A	ENSP00000314599.7:p.Ala349Thr
ENST00000346817.10:c.1117G>A	ENSP00000237865.7:p.Ala373Thr
ENST00000438843.6:c.*703G>A	ENSP00000401914.1:n.*703G>A
ENST00000492363.6:c.*332G>A	ENSP00000512459.1:n.*332G>A
ENST00000696199.1:c.721+5627G>A	ENSP00000512481.1:n.721+5627G>A
ENST00000286186.11:c.1246G>A MANE Select	ENSP00000286186.6:p.Ala416Thr
ENST00000272879.9:c.1246G>A	ENSP00000272879.5:p.Ala416Thr
ENST00000286186.10:c.1246G>A	ENSP00000286186.6:p.Ala416Thr
ENST00000313728.11:c.1045G>A	ENSP00000314599.7:p.Ala349Thr
ENST00000346817.9:c.1117G>A	ENSP00000237865.7:p.Ala373Thr
ENST00000360132.7:c.*332G>A	ENSP00000353250.3:n.*332G>A
ENST00000448480.1:c.1117G>A	ENSP00000396835.1:p.Ala373Thr
ENST00000492363.5:n.1154G>A
NM_001206524.1:c.1045G>A	NP_001193453.1:p.Ala349Thr
NM_001206542.1:c.1117G>A	NP_001193471.1:p.Ala373Thr
NM_001230.4:c.1117G>A	NP_001221.2:p.Ala373Thr
NM_032974.4:c.1246G>A	NP_116756.2:p.Ala416Thr
NM_032976.3:c.*332G>A	NP_116758.1:n.*332G>A
NM_032977.3:c.1246G>A , LRG_33t1:c.1246G>A	NP_116759.2:p.Ala416Thr
XM_005246907.2:c.1243G>A	XP_005246964.1:p.Ala415Thr
XM_006712796.2:c.496G>A	XP_006712859.1:p.Ala166Thr
XM_006712796.3:c.496G>A	XP_006712859.1:p.Ala166Thr
NM_001206524.2:c.1045G>A	NP_001193453.1:p.Ala349Thr
NM_001206542.2:c.1117G>A	NP_001193471.1:p.Ala373Thr
NM_001230.5:c.1117G>A	NP_001221.2:p.Ala373Thr
NM_032974.5:c.1246G>A	NP_116756.2:p.Ala416Thr
NM_032977.4:c.1246G>A MANE Select	NP_116759.2:p.Ala416Thr
NM_032976.4:c.*332G>A	NP_116758.1:n.*332G>A