Canonical Allele Identifier: CA2575289345

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340976del , CM000674.2:g.110340976del	GRCh38
NC_000012.11:g.110778781del , CM000674.1:g.110778781del	GRCh37
NC_000012.10:g.109263164del	NCBI36
NG_007097.2:g.64350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2079del MANE Select	ENSP00000440045.2:p.Phe693LeufsTer7
ENST00000308664.10:c.2079del	ENSP00000311186.6:p.Phe693LeufsTer7
ENST00000377685.9:c.*1919del	ENSP00000366913.4:n.*1919del
ENST00000539276.6:c.2079del	ENSP00000440045.2:p.Phe693LeufsTer7
ENST00000548169.2:c.1750del
NM_001681.3:c.2079del	NP_001672.1:p.Phe693LeufsTer7
NM_170665.3:c.2079del	NP_733765.1:p.Phe693LeufsTer7
XM_005253888.1:c.2079del	XP_005253945.1:p.Phe693LeufsTer7
XM_011538402.1:c.2079del	XP_011536704.1:p.Phe693LeufsTer7
XM_011538403.1:c.2079del	XP_011536705.1:p.Phe693LeufsTer7
XR_243009.1:n.2085del
XM_005253888.3:c.2079del	XP_005253945.1:p.Phe693LeufsTer7
XM_011538402.3:c.2079del	XP_011536704.1:p.Phe693LeufsTer7
XR_002957329.1:n.2085del
XR_243009.3:n.2085del
NM_170665.4:c.2079del MANE Select	NP_733765.1:p.Phe693LeufsTer7
NM_001681.4:c.2079del	NP_001672.1:p.Phe693LeufsTer7