Canonical Allele Identifier: CA2620870553
Gene: ATP2A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110345607_110345616del , CM000674.2:g.110345607_110345616del GRCh38
NC_000012.11:g.110783412_110783421del , CM000674.1:g.110783412_110783421del GRCh37
NC_000012.10:g.109267795_109267804del NCBI36
NG_007097.2:g.68981_68990del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2741+225_2741+234del MANE Select ENSP00000440045.2:n.2741+225_2741+234del
ENST00000308664.10:c.2741+225_2741+234del ENSP00000311186.6:n.2741+225_2741+234del
ENST00000313432.5:n.171_180del
ENST00000377685.9:c.*2581+225_*2581+234del ENSP00000366913.4:n.*2581+225_*2581+234del
ENST00000539276.6:c.2741+225_2741+234del ENSP00000440045.2:n.2741+225_2741+234del
ENST00000548169.2:c.2412+225_2412+234del
NM_001681.3:c.2741+225_2741+234del NP_001672.1:n.2741+225_2741+234del
NM_170665.3:c.2741+225_2741+234del NP_733765.1:n.2741+225_2741+234del
XM_005253888.1:c.2741+225_2741+234del XP_005253945.1:n.2741+225_2741+234del
XM_011538402.1:c.2741+225_2741+234del XP_011536704.1:n.2741+225_2741+234del
XR_243009.1:n.2747+225_2747+234del
XM_005253888.3:c.2741+225_2741+234del XP_005253945.1:n.2741+225_2741+234del
XM_011538402.3:c.2741+225_2741+234del XP_011536704.1:n.2741+225_2741+234del
XR_002957329.1:n.2747+225_2747+234del
XR_243009.3:n.2747+225_2747+234del
NM_170665.4:c.2741+225_2741+234del MANE Select NP_733765.1:n.2741+225_2741+234del
NM_001681.4:c.2741+225_2741+234del NP_001672.1:n.2741+225_2741+234del