Canonical Allele Identifier: CA2695217308

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340819_110340820insG , CM000674.2:g.110340819_110340820insG	GRCh38
NC_000012.11:g.110778624_110778625insG , CM000674.1:g.110778624_110778625insG	GRCh37
NC_000012.10:g.109263007_109263008insG	NCBI36
NG_007097.2:g.64193_64194insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1922_1923insG MANE Select	ENSP00000440045.2:p.Phe641LeufsTer5
ENST00000308664.10:c.1922_1923insG	ENSP00000311186.6:p.Phe641LeufsTer5
ENST00000377685.9:c.*1762_*1763insG	ENSP00000366913.4:n.*1762_*1763insG
ENST00000539276.6:c.1922_1923insG	ENSP00000440045.2:p.Phe641LeufsTer5
ENST00000548169.2:c.1593_1594insG
NM_001681.3:c.1922_1923insG	NP_001672.1:p.Phe641LeufsTer5
NM_170665.3:c.1922_1923insG	NP_733765.1:p.Phe641LeufsTer5
XM_005253888.1:c.1922_1923insG	XP_005253945.1:p.Phe641LeufsTer5
XM_011538402.1:c.1922_1923insG	XP_011536704.1:p.Phe641LeufsTer5
XM_011538403.1:c.1922_1923insG	XP_011536705.1:p.Phe641LeufsTer5
XR_243009.1:n.1928_1929insG
XM_005253888.3:c.1922_1923insG	XP_005253945.1:p.Phe641LeufsTer5
XM_011538402.3:c.1922_1923insG	XP_011536704.1:p.Phe641LeufsTer5
XR_002957329.1:n.1928_1929insG
XR_243009.3:n.1928_1929insG
NM_170665.4:c.1922_1923insG MANE Select	NP_733765.1:p.Phe641LeufsTer5
NM_001681.4:c.1922_1923insG	NP_001672.1:p.Phe641LeufsTer5