Canonical Allele Identifier: CA10636509
Community Standard Title: NM_170665.4(ATP2A2):c.*4580C>T
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110351050C>T , CM000674.2:g.110351050C>T GRCh38
NC_000012.11:g.110788855C>T , CM000674.1:g.110788855C>T GRCh37
NC_000012.10:g.109273238C>T NCBI36
NG_007097.2:g.74424C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.*4580C>T MANE Select NP_733765.1:n.*4580C>T
ENST00000539276.7:c.*4580C>T MANE Select ENSP00000440045.2:n.*4580C>T
NM_001681.3:c.*745C>T NP_001672.1:n.*745C>T
NM_001681.4:c.*745C>T NP_001672.1:n.*745C>T
NM_170665.3:c.*4580C>T NP_733765.1:n.*4580C>T
ENST00000308664.10:c.*745C>T ENSP00000311186.6:n.*745C>T
ENST00000313432.5:n.5532C>T
ENST00000377685.9:c.*5049C>T ENSP00000366913.4:n.*5049C>T
XM_005253888.1:c.*800C>T XP_005253945.1:n.*800C>T
XR_002957329.1:n.5215C>T
XR_243009.1:n.4144C>T
XR_243009.3:n.4144C>T