Canonical Allele Identifier: CA386667959
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110327830C>T , CM000674.2:g.110327830C>T GRCh38
NC_000012.11:g.110765635C>T , CM000674.1:g.110765635C>T GRCh37
NC_000012.10:g.109250018C>T NCBI36
NG_007097.2:g.51204C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.908C>T MANE Select NP_733765.1:p.Ala303Val
ENST00000539276.7:c.908C>T MANE Select ENSP00000440045.2:p.Ala303Val
NM_001681.3:c.908C>T NP_001672.1:p.Ala303Val
NM_001681.4:c.908C>T NP_001672.1:p.Ala303Val
NM_170665.3:c.908C>T NP_733765.1:p.Ala303Val
ENST00000308664.10:c.908C>T ENSP00000311186.6:p.Ala303Val
ENST00000377685.9:c.*748C>T ENSP00000366913.4:n.*748C>T
ENST00000539276.6:c.908C>T ENSP00000440045.2:p.Ala303Val
ENST00000547050.1:n.953C>T
ENST00000548169.2:c.579C>T
ENST00000549840.1:n.144C>T
XM_005253888.1:c.908C>T XP_005253945.1:p.Ala303Val
XM_005253888.3:c.908C>T XP_005253945.1:p.Ala303Val
XM_011538402.1:c.908C>T XP_011536704.1:p.Ala303Val
XM_011538402.3:c.908C>T XP_011536704.1:p.Ala303Val
XM_011538403.1:c.908C>T XP_011536705.1:p.Ala303Val
XR_002957329.1:n.914C>T
XR_243009.1:n.914C>T
XR_243009.3:n.914C>T