Canonical Allele Identifier: CA2062807514

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343612_110343616delinsCAGTT , CM000674.2:g.110343612_110343616delinsCAGTT	GRCh38
NC_000012.11:g.110781417_110781421delinsCAGTT , CM000674.1:g.110781417_110781421delinsCAGTT	GRCh37
NC_000012.10:g.109265800_109265804delinsCAGTT	NCBI36
NG_007097.2:g.66986_66990delinsCAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2521+178_2521+182delinsCAGTT MANE Select	ENSP00000440045.2:n.2521+178_2521+182delinsCAGTT
ENST00000308664.10:c.2521+178_2521+182delinsCAGTT	ENSP00000311186.6:n.2521+178_2521+182delinsCAGTT
ENST00000377685.9:c.*2361+178_*2361+182delinsCAGTT	ENSP00000366913.4:n.*2361+178_*2361+182delinsCAGTT
ENST00000539276.6:c.2521+178_2521+182delinsCAGTT	ENSP00000440045.2:n.2521+178_2521+182delinsCAGTT
ENST00000547792.1:n.179+178_179+182delinsCAGTT
ENST00000548169.2:c.2192+178_2192+182delinsCAGTT
NM_001681.3:c.2521+178_2521+182delinsCAGTT	NP_001672.1:n.2521+178_2521+182delinsCAGTT
NM_170665.3:c.2521+178_2521+182delinsCAGTT	NP_733765.1:n.2521+178_2521+182delinsCAGTT
XM_005253888.1:c.2521+178_2521+182delinsCAGTT	XP_005253945.1:n.2521+178_2521+182delinsCAGTT
XM_011538402.1:c.2521+178_2521+182delinsCAGTT	XP_011536704.1:n.2521+178_2521+182delinsCAGTT
XM_011538403.1:c.2521+178_2521+182delinsCAGTT	XP_011536705.1:n.2521+178_2521+182delinsCAGTT
XR_243009.1:n.2527+178_2527+182delinsCAGTT
XM_005253888.3:c.2521+178_2521+182delinsCAGTT	XP_005253945.1:n.2521+178_2521+182delinsCAGTT
XM_011538402.3:c.2521+178_2521+182delinsCAGTT	XP_011536704.1:n.2521+178_2521+182delinsCAGTT
XR_002957329.1:n.2527+178_2527+182delinsCAGTT
XR_243009.3:n.2527+178_2527+182delinsCAGTT
NM_170665.4:c.2521+178_2521+182delinsCAGTT MANE Select	NP_733765.1:n.2521+178_2521+182delinsCAGTT
NM_001681.4:c.2521+178_2521+182delinsCAGTT	NP_001672.1:n.2521+178_2521+182delinsCAGTT