Canonical Allele Identifier: CA10636506
Community Standard Title: NM_170665.4(ATP2A2):c.*3918G>T
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110350388G>T , CM000674.2:g.110350388G>T GRCh38
NC_000012.11:g.110788193G>T , CM000674.1:g.110788193G>T GRCh37
NC_000012.10:g.109272576G>T NCBI36
NG_007097.2:g.73762G>T

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.*3918G>T MANE Select NP_733765.1:n.*3918G>T
ENST00000539276.7:c.*3918G>T MANE Select ENSP00000440045.2:n.*3918G>T
NM_001681.3:c.*83G>T NP_001672.1:n.*83G>T
NM_001681.4:c.*83G>T NP_001672.1:n.*83G>T
NM_170665.3:c.*3918G>T NP_733765.1:n.*3918G>T
ENST00000308664.10:c.*83G>T ENSP00000311186.6:n.*83G>T
ENST00000313432.5:n.4870G>T
ENST00000377685.9:c.*4387G>T ENSP00000366913.4:n.*4387G>T
XM_005253888.1:c.*138G>T XP_005253945.1:n.*138G>T
XM_005253888.3:c.*138G>T XP_005253945.1:n.*138G>T
XR_002957329.1:n.4553G>T
XR_243009.1:n.3482G>T
XR_243009.3:n.3482G>T