Canonical Allele Identifier: CA2797436409
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110339802_110339805del , CM000674.2:g.110339802_110339805del GRCh38
NC_000012.11:g.110777607_110777610del , CM000674.1:g.110777607_110777610del GRCh37
NC_000012.10:g.109261990_109261993del NCBI36
NG_007097.2:g.63176_63179del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.1761+81_1761+84del MANE Select ENSP00000440045.2:n.1761+81_1761+84del
ENST00000308664.10:c.1761+81_1761+84del ENSP00000311186.6:n.1761+81_1761+84del
ENST00000377685.9:c.*1601+81_*1601+84del ENSP00000366913.4:n.*1601+81_*1601+84del
ENST00000539276.6:c.1761+81_1761+84del ENSP00000440045.2:n.1761+81_1761+84del
ENST00000548169.2:c.1432+81_1432+84del
NM_001681.3:c.1761+81_1761+84del NP_001672.1:n.1761+81_1761+84del
NM_170665.3:c.1761+81_1761+84del NP_733765.1:n.1761+81_1761+84del
XM_005253888.1:c.1761+81_1761+84del XP_005253945.1:n.1761+81_1761+84del
XM_011538402.1:c.1761+81_1761+84del XP_011536704.1:n.1761+81_1761+84del
XM_011538403.1:c.1761+81_1761+84del XP_011536705.1:n.1761+81_1761+84del
XR_243009.1:n.1767+81_1767+84del
XM_005253888.3:c.1761+81_1761+84del XP_005253945.1:n.1761+81_1761+84del
XM_011538402.3:c.1761+81_1761+84del XP_011536704.1:n.1761+81_1761+84del
XR_002957329.1:n.1767+81_1767+84del
XR_243009.3:n.1767+81_1767+84del
NM_170665.4:c.1761+81_1761+84del MANE Select NP_733765.1:n.1761+81_1761+84del
NM_001681.4:c.1761+81_1761+84del NP_001672.1:n.1761+81_1761+84del