Canonical Allele Identifier: CA2062803814

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339835_110339839delinsGTTAT , CM000674.2:g.110339835_110339839delinsGTTAT	GRCh38
NC_000012.11:g.110777640_110777644delinsGTTAT , CM000674.1:g.110777640_110777644delinsGTTAT	GRCh37
NC_000012.10:g.109262023_109262027delinsGTTAT	NCBI36
NG_007097.2:g.63209_63213delinsGTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1761+114_1761+118delinsGTTAT MANE Select	ENSP00000440045.2:n.1761+114_1761+118delinsGTTAT
ENST00000308664.10:c.1761+114_1761+118delinsGTTAT	ENSP00000311186.6:n.1761+114_1761+118delinsGTTAT
ENST00000377685.9:c.*1601+114_*1601+118delinsGTTAT	ENSP00000366913.4:n.*1601+114_*1601+118delinsGTTAT
ENST00000539276.6:c.1761+114_1761+118delinsGTTAT	ENSP00000440045.2:n.1761+114_1761+118delinsGTTAT
ENST00000548169.2:c.1432+114_1432+118delinsGTTAT
NM_001681.3:c.1761+114_1761+118delinsGTTAT	NP_001672.1:n.1761+114_1761+118delinsGTTAT
NM_170665.3:c.1761+114_1761+118delinsGTTAT	NP_733765.1:n.1761+114_1761+118delinsGTTAT
XM_005253888.1:c.1761+114_1761+118delinsGTTAT	XP_005253945.1:n.1761+114_1761+118delinsGTTAT
XM_011538402.1:c.1761+114_1761+118delinsGTTAT	XP_011536704.1:n.1761+114_1761+118delinsGTTAT
XM_011538403.1:c.1761+114_1761+118delinsGTTAT	XP_011536705.1:n.1761+114_1761+118delinsGTTAT
XR_243009.1:n.1767+114_1767+118delinsGTTAT
XM_005253888.3:c.1761+114_1761+118delinsGTTAT	XP_005253945.1:n.1761+114_1761+118delinsGTTAT
XM_011538402.3:c.1761+114_1761+118delinsGTTAT	XP_011536704.1:n.1761+114_1761+118delinsGTTAT
XR_002957329.1:n.1767+114_1767+118delinsGTTAT
XR_243009.3:n.1767+114_1767+118delinsGTTAT
NM_170665.4:c.1761+114_1761+118delinsGTTAT MANE Select	NP_733765.1:n.1761+114_1761+118delinsGTTAT
NM_001681.4:c.1761+114_1761+118delinsGTTAT	NP_001672.1:n.1761+114_1761+118delinsGTTAT