Canonical Allele Identifier: CA2695217328
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110345350_110345355del , CM000674.2:g.110345350_110345355del GRCh38
NC_000012.11:g.110783155_110783160del , CM000674.1:g.110783155_110783160del GRCh37
NC_000012.10:g.109267538_109267543del NCBI36
NG_007097.2:g.68724_68729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2709_2714del MANE Select ENSP00000440045.2:p.Val904_Thr905del
ENST00000308664.10:c.2709_2714del ENSP00000311186.6:p.Val904_Thr905del
ENST00000377685.9:c.*2549_*2554del ENSP00000366913.4:n.*2549_*2554del
ENST00000539276.6:c.2709_2714del ENSP00000440045.2:p.Val904_Thr905del
ENST00000548169.2:c.2380_2385del
NM_001681.3:c.2709_2714del NP_001672.1:p.Val904_Thr905del
NM_170665.3:c.2709_2714del NP_733765.1:p.Val904_Thr905del
XM_005253888.1:c.2709_2714del XP_005253945.1:p.Val904_Thr905del
XM_011538402.1:c.2709_2714del XP_011536704.1:p.Val904_Thr905del
XR_243009.1:n.2715_2720del
XM_005253888.3:c.2709_2714del XP_005253945.1:p.Val904_Thr905del
XM_011538402.3:c.2709_2714del XP_011536704.1:p.Val904_Thr905del
XR_002957329.1:n.2715_2720del
XR_243009.3:n.2715_2720del
NM_170665.4:c.2709_2714del MANE Select NP_733765.1:p.Val904_Thr905del
NM_001681.4:c.2709_2714del NP_001672.1:p.Val904_Thr905del