Canonical Allele Identifier: CA683513429

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1178967609
• MyVariant Identifiers: chr12:g.110779988_110779989del (hg19) ; chr12:g.110342183_110342184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110342185_110342186del , CM000674.2:g.110342185_110342186del	GRCh38
NC_000012.11:g.110779990_110779991del , CM000674.1:g.110779990_110779991del	GRCh37
NC_000012.10:g.109264373_109264374del	NCBI36
NG_007097.2:g.65559_65560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2098-43_2098-42del MANE Select	ENSP00000440045.2:n.2098-43_2098-42del
ENST00000308664.10:c.2098-43_2098-42del	ENSP00000311186.6:n.2098-43_2098-42del
ENST00000377685.9:c.*1938-43_*1938-42del	ENSP00000366913.4:n.*1938-43_*1938-42del
ENST00000539276.6:c.2098-43_2098-42del	ENSP00000440045.2:n.2098-43_2098-42del
ENST00000548169.2:c.1769-43_1769-42del
NM_001681.3:c.2098-43_2098-42del	NP_001672.1:n.2098-43_2098-42del
NM_170665.3:c.2098-43_2098-42del	NP_733765.1:n.2098-43_2098-42del
XM_005253888.1:c.2098-43_2098-42del	XP_005253945.1:n.2098-43_2098-42del
XM_011538402.1:c.2098-43_2098-42del	XP_011536704.1:n.2098-43_2098-42del
XM_011538403.1:c.2098-43_2098-42del	XP_011536705.1:n.2098-43_2098-42del
XR_243009.1:n.2104-43_2104-42del
XM_005253888.3:c.2098-43_2098-42del	XP_005253945.1:n.2098-43_2098-42del
XM_011538402.3:c.2098-43_2098-42del	XP_011536704.1:n.2098-43_2098-42del
XR_002957329.1:n.2104-43_2104-42del
XR_243009.3:n.2104-43_2104-42del
NM_170665.4:c.2098-43_2098-42del MANE Select	NP_733765.1:n.2098-43_2098-42del
NM_001681.4:c.2098-43_2098-42del	NP_001672.1:n.2098-43_2098-42del