Canonical Allele Identifier: CA2830554315
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110345078del , CM000674.2:g.110345078del GRCh38
NC_000012.11:g.110782883del , CM000674.1:g.110782883del GRCh37
NC_000012.10:g.109267266del NCBI36
NG_007097.2:g.68452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2607+107del MANE Select ENSP00000440045.2:n.2607+107del
ENST00000308664.10:c.2607+107del ENSP00000311186.6:n.2607+107del
ENST00000377685.9:c.*2447+107del ENSP00000366913.4:n.*2447+107del
ENST00000539276.6:c.2607+107del ENSP00000440045.2:n.2607+107del
ENST00000547792.1:n.372del
ENST00000548169.2:c.2278+107del
NM_001681.3:c.2607+107del NP_001672.1:n.2607+107del
NM_170665.3:c.2607+107del NP_733765.1:n.2607+107del
XM_005253888.1:c.2607+107del XP_005253945.1:n.2607+107del
XM_011538402.1:c.2607+107del XP_011536704.1:n.2607+107del
XR_243009.1:n.2613+107del
XM_005253888.3:c.2607+107del XP_005253945.1:n.2607+107del
XM_011538402.3:c.2607+107del XP_011536704.1:n.2607+107del
XR_002957329.1:n.2613+107del
XR_243009.3:n.2613+107del
NM_170665.4:c.2607+107del MANE Select NP_733765.1:n.2607+107del
NM_001681.4:c.2607+107del NP_001672.1:n.2607+107del