Canonical Allele Identifier: CA2695217307
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110340816dup , CM000674.2:g.110340816dup GRCh38
NC_000012.11:g.110778621dup , CM000674.1:g.110778621dup GRCh37
NC_000012.10:g.109263004dup NCBI36
NG_007097.2:g.64190dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.1919dup MANE Select ENSP00000440045.2:p.Phe641LeufsTer5
ENST00000308664.10:c.1919dup ENSP00000311186.6:p.Phe641LeufsTer5
ENST00000377685.9:c.*1759dup ENSP00000366913.4:n.*1759dup
ENST00000539276.6:c.1919dup ENSP00000440045.2:p.Phe641LeufsTer5
ENST00000548169.2:c.1590dup
NM_001681.3:c.1919dup NP_001672.1:p.Phe641LeufsTer5
NM_170665.3:c.1919dup NP_733765.1:p.Phe641LeufsTer5
XM_005253888.1:c.1919dup XP_005253945.1:p.Phe641LeufsTer5
XM_011538402.1:c.1919dup XP_011536704.1:p.Phe641LeufsTer5
XM_011538403.1:c.1919dup XP_011536705.1:p.Phe641LeufsTer5
XR_243009.1:n.1925dup
XM_005253888.3:c.1919dup XP_005253945.1:p.Phe641LeufsTer5
XM_011538402.3:c.1919dup XP_011536704.1:p.Phe641LeufsTer5
XR_002957329.1:n.1925dup
XR_243009.3:n.1925dup
NM_170665.4:c.1919dup MANE Select NP_733765.1:p.Phe641LeufsTer5
NM_001681.4:c.1919dup NP_001672.1:p.Phe641LeufsTer5