Canonical Allele Identifier: CA2695217291

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339573_110339574del , CM000674.2:g.110339573_110339574del	GRCh38
NC_000012.11:g.110777378_110777379del , CM000674.1:g.110777378_110777379del	GRCh37
NC_000012.10:g.109261761_109261762del	NCBI36
NG_007097.2:g.62947_62948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1613_1614del MANE Select	ENSP00000440045.2:p.Ser538TrpfsTer15
ENST00000308664.10:c.1613_1614del	ENSP00000311186.6:p.Ser538TrpfsTer15
ENST00000377685.9:c.*1453_*1454del	ENSP00000366913.4:n.*1453_*1454del
ENST00000539276.6:c.1613_1614del	ENSP00000440045.2:p.Ser538TrpfsTer15
ENST00000548169.2:c.1284_1285del
NM_001681.3:c.1613_1614del	NP_001672.1:p.Ser538TrpfsTer15
NM_170665.3:c.1613_1614del	NP_733765.1:p.Ser538TrpfsTer15
XM_005253888.1:c.1613_1614del	XP_005253945.1:p.Ser538TrpfsTer15
XM_011538402.1:c.1613_1614del	XP_011536704.1:p.Ser538TrpfsTer15
XM_011538403.1:c.1613_1614del	XP_011536705.1:p.Ser538TrpfsTer15
XR_243009.1:n.1619_1620del
XM_005253888.3:c.1613_1614del	XP_005253945.1:p.Ser538TrpfsTer15
XM_011538402.3:c.1613_1614del	XP_011536704.1:p.Ser538TrpfsTer15
XR_002957329.1:n.1619_1620del
XR_243009.3:n.1619_1620del
NM_170665.4:c.1613_1614del MANE Select	NP_733765.1:p.Ser538TrpfsTer15
NM_001681.4:c.1613_1614del	NP_001672.1:p.Ser538TrpfsTer15