Canonical Allele Identifier: CA2695217294
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110339586_110339587del , CM000674.2:g.110339586_110339587del GRCh38
NC_000012.11:g.110777391_110777392del , CM000674.1:g.110777391_110777392del GRCh37
NC_000012.10:g.109261774_109261775del NCBI36
NG_007097.2:g.62960_62961del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.1626_1627del MANE Select ENSP00000440045.2:p.Lys543AspfsTer10
ENST00000308664.10:c.1626_1627del ENSP00000311186.6:p.Lys543AspfsTer10
ENST00000377685.9:c.*1466_*1467del ENSP00000366913.4:n.*1466_*1467del
ENST00000539276.6:c.1626_1627del ENSP00000440045.2:p.Lys543AspfsTer10
ENST00000548169.2:c.1297_1298del
NM_001681.3:c.1626_1627del NP_001672.1:p.Lys543AspfsTer10
NM_170665.3:c.1626_1627del NP_733765.1:p.Lys543AspfsTer10
XM_005253888.1:c.1626_1627del XP_005253945.1:p.Lys543AspfsTer10
XM_011538402.1:c.1626_1627del XP_011536704.1:p.Lys543AspfsTer10
XM_011538403.1:c.1626_1627del XP_011536705.1:p.Lys543AspfsTer10
XR_243009.1:n.1632_1633del
XM_005253888.3:c.1626_1627del XP_005253945.1:p.Lys543AspfsTer10
XM_011538402.3:c.1626_1627del XP_011536704.1:p.Lys543AspfsTer10
XR_002957329.1:n.1632_1633del
XR_243009.3:n.1632_1633del
NM_170665.4:c.1626_1627del MANE Select NP_733765.1:p.Lys543AspfsTer10
NM_001681.4:c.1626_1627del NP_001672.1:p.Lys543AspfsTer10