Canonical Allele Identifier: CA2530367623
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110343649del , CM000674.2:g.110343649del GRCh38
NC_000012.11:g.110781454del , CM000674.1:g.110781454del GRCh37
NC_000012.10:g.109265837del NCBI36
NG_007097.2:g.67023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2521+215del MANE Select ENSP00000440045.2:n.2521+215del
ENST00000308664.10:c.2521+215del ENSP00000311186.6:n.2521+215del
ENST00000377685.9:c.*2361+215del ENSP00000366913.4:n.*2361+215del
ENST00000539276.6:c.2521+215del ENSP00000440045.2:n.2521+215del
ENST00000547792.1:n.179+215del
ENST00000548169.2:c.2192+215del
NM_001681.3:c.2521+215del NP_001672.1:n.2521+215del
NM_170665.3:c.2521+215del NP_733765.1:n.2521+215del
XM_005253888.1:c.2521+215del XP_005253945.1:n.2521+215del
XM_011538402.1:c.2521+215del XP_011536704.1:n.2521+215del
XM_011538403.1:c.2521+215del XP_011536705.1:n.2521+215del
XR_243009.1:n.2527+215del
XM_005253888.3:c.2521+215del XP_005253945.1:n.2521+215del
XM_011538402.3:c.2521+215del XP_011536704.1:n.2521+215del
XR_002957329.1:n.2527+215del
XR_243009.3:n.2527+215del
NM_170665.4:c.2521+215del MANE Select NP_733765.1:n.2521+215del
NM_001681.4:c.2521+215del NP_001672.1:n.2521+215del