Canonical Allele Identifier: CA2830554314

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345071_110345074del , CM000674.2:g.110345071_110345074del	GRCh38
NC_000012.11:g.110782876_110782879del , CM000674.1:g.110782876_110782879del	GRCh37
NC_000012.10:g.109267259_109267262del	NCBI36
NG_007097.2:g.68445_68448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2607+100_2607+103del MANE Select	ENSP00000440045.2:n.2607+100_2607+103del
ENST00000308664.10:c.2607+100_2607+103del	ENSP00000311186.6:n.2607+100_2607+103del
ENST00000377685.9:c.*2447+100_*2447+103del	ENSP00000366913.4:n.*2447+100_*2447+103del
ENST00000539276.6:c.2607+100_2607+103del	ENSP00000440045.2:n.2607+100_2607+103del
ENST00000547792.1:n.365_368del
ENST00000548169.2:c.2278+100_2278+103del
NM_001681.3:c.2607+100_2607+103del	NP_001672.1:n.2607+100_2607+103del
NM_170665.3:c.2607+100_2607+103del	NP_733765.1:n.2607+100_2607+103del
XM_005253888.1:c.2607+100_2607+103del	XP_005253945.1:n.2607+100_2607+103del
XM_011538402.1:c.2607+100_2607+103del	XP_011536704.1:n.2607+100_2607+103del
XR_243009.1:n.2613+100_2613+103del
XM_005253888.3:c.2607+100_2607+103del	XP_005253945.1:n.2607+100_2607+103del
XM_011538402.3:c.2607+100_2607+103del	XP_011536704.1:n.2607+100_2607+103del
XR_002957329.1:n.2613+100_2613+103del
XR_243009.3:n.2613+100_2613+103del
NM_170665.4:c.2607+100_2607+103del MANE Select	NP_733765.1:n.2607+100_2607+103del
NM_001681.4:c.2607+100_2607+103del	NP_001672.1:n.2607+100_2607+103del