Canonical Allele Identifier: CA2695217293

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339583del , CM000674.2:g.110339583del	GRCh38
NC_000012.11:g.110777388del , CM000674.1:g.110777388del	GRCh37
NC_000012.10:g.109261771del	NCBI36
NG_007097.2:g.62957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1623del MANE Select	ENSP00000440045.2:p.Lys541AsnfsTer30
ENST00000308664.10:c.1623del	ENSP00000311186.6:p.Lys541AsnfsTer30
ENST00000377685.9:c.*1463del	ENSP00000366913.4:n.*1463del
ENST00000539276.6:c.1623del	ENSP00000440045.2:p.Lys541AsnfsTer30
ENST00000548169.2:c.1294del
NM_001681.3:c.1623del	NP_001672.1:p.Lys541AsnfsTer30
NM_170665.3:c.1623del	NP_733765.1:p.Lys541AsnfsTer30
XM_005253888.1:c.1623del	XP_005253945.1:p.Lys541AsnfsTer30
XM_011538402.1:c.1623del	XP_011536704.1:p.Lys541AsnfsTer30
XM_011538403.1:c.1623del	XP_011536705.1:p.Lys541AsnfsTer30
XR_243009.1:n.1629del
XM_005253888.3:c.1623del	XP_005253945.1:p.Lys541AsnfsTer30
XM_011538402.3:c.1623del	XP_011536704.1:p.Lys541AsnfsTer30
XR_002957329.1:n.1629del
XR_243009.3:n.1629del
NM_170665.4:c.1623del MANE Select	NP_733765.1:p.Lys541AsnfsTer30
NM_001681.4:c.1623del	NP_001672.1:p.Lys541AsnfsTer30