Canonical Allele Identifier: CA2695217314
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110342232_110342267del , CM000674.2:g.110342232_110342267del GRCh38
NC_000012.11:g.110780037_110780072del , CM000674.1:g.110780037_110780072del GRCh37
NC_000012.10:g.109264420_109264455del NCBI36
NG_007097.2:g.65606_65641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2102_2137del MANE Select ENSP00000440045.2:p.Gly701_Lys712del
ENST00000308664.10:c.2102_2137del ENSP00000311186.6:p.Gly701_Lys712del
ENST00000377685.9:c.*1942_*1977del ENSP00000366913.4:n.*1942_*1977del
ENST00000539276.6:c.2102_2137del ENSP00000440045.2:p.Gly701_Lys712del
ENST00000548169.2:c.1773_1808del
NM_001681.3:c.2102_2137del NP_001672.1:p.Gly701_Lys712del
NM_170665.3:c.2102_2137del NP_733765.1:p.Gly701_Lys712del
XM_005253888.1:c.2102_2137del XP_005253945.1:p.Gly701_Lys712del
XM_011538402.1:c.2102_2137del XP_011536704.1:p.Gly701_Lys712del
XM_011538403.1:c.2102_2137del XP_011536705.1:p.Gly701_Lys712del
XR_243009.1:n.2108_2143del
XM_005253888.3:c.2102_2137del XP_005253945.1:p.Gly701_Lys712del
XM_011538402.3:c.2102_2137del XP_011536704.1:p.Gly701_Lys712del
XR_002957329.1:n.2108_2143del
XR_243009.3:n.2108_2143del
NM_170665.4:c.2102_2137del MANE Select NP_733765.1:p.Gly701_Lys712del
NM_001681.4:c.2102_2137del NP_001672.1:p.Gly701_Lys712del