Canonical Allele Identifier: CA2620870392

Gene: ATP2A2

Linked Data

• gnomAD v4: 12-110345175-GCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345176_110345178del , CM000674.2:g.110345176_110345178del	GRCh38
NC_000012.11:g.110782981_110782983del , CM000674.1:g.110782981_110782983del	GRCh37
NC_000012.10:g.109267364_109267366del	NCBI36
NG_007097.2:g.68550_68552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2608-73_2608-71del MANE Select	ENSP00000440045.2:n.2608-73_2608-71del
ENST00000308664.10:c.2608-73_2608-71del	ENSP00000311186.6:n.2608-73_2608-71del
ENST00000377685.9:c.*2448-73_*2448-71del	ENSP00000366913.4:n.*2448-73_*2448-71del
ENST00000539276.6:c.2608-73_2608-71del	ENSP00000440045.2:n.2608-73_2608-71del
ENST00000547792.1:n.470_472del
ENST00000548169.2:c.2279-73_2279-71del
NM_001681.3:c.2608-73_2608-71del	NP_001672.1:n.2608-73_2608-71del
NM_170665.3:c.2608-73_2608-71del	NP_733765.1:n.2608-73_2608-71del
XM_005253888.1:c.2608-73_2608-71del	XP_005253945.1:n.2608-73_2608-71del
XM_011538402.1:c.2608-73_2608-71del	XP_011536704.1:n.2608-73_2608-71del
XR_243009.1:n.2614-73_2614-71del
XM_005253888.3:c.2608-73_2608-71del	XP_005253945.1:n.2608-73_2608-71del
XM_011538402.3:c.2608-73_2608-71del	XP_011536704.1:n.2608-73_2608-71del
XR_002957329.1:n.2614-73_2614-71del
XR_243009.3:n.2614-73_2614-71del
NM_170665.4:c.2608-73_2608-71del MANE Select	NP_733765.1:n.2608-73_2608-71del
NM_001681.4:c.2608-73_2608-71del	NP_001672.1:n.2608-73_2608-71del