Canonical Allele Identifier: CA2695217313
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110340943dup , CM000674.2:g.110340943dup GRCh38
NC_000012.11:g.110778748dup , CM000674.1:g.110778748dup GRCh37
NC_000012.10:g.109263131dup NCBI36
NG_007097.2:g.64317dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2046dup MANE Select ENSP00000440045.2:p.Lys683GlnfsTer3
ENST00000308664.10:c.2046dup ENSP00000311186.6:p.Lys683GlnfsTer3
ENST00000377685.9:c.*1886dup ENSP00000366913.4:n.*1886dup
ENST00000539276.6:c.2046dup ENSP00000440045.2:p.Lys683GlnfsTer3
ENST00000548169.2:c.1717dup
NM_001681.3:c.2046dup NP_001672.1:p.Lys683GlnfsTer3
NM_170665.3:c.2046dup NP_733765.1:p.Lys683GlnfsTer3
XM_005253888.1:c.2046dup XP_005253945.1:p.Lys683GlnfsTer3
XM_011538402.1:c.2046dup XP_011536704.1:p.Lys683GlnfsTer3
XM_011538403.1:c.2046dup XP_011536705.1:p.Lys683GlnfsTer3
XR_243009.1:n.2052dup
XM_005253888.3:c.2046dup XP_005253945.1:p.Lys683GlnfsTer3
XM_011538402.3:c.2046dup XP_011536704.1:p.Lys683GlnfsTer3
XR_002957329.1:n.2052dup
XR_243009.3:n.2052dup
NM_170665.4:c.2046dup MANE Select NP_733765.1:p.Lys683GlnfsTer3
NM_001681.4:c.2046dup NP_001672.1:p.Lys683GlnfsTer3