Canonical Allele Identifier: CA6784253
Community Standard Title: NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=)
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110346266C>T , CM000674.2:g.110346266C>T GRCh38
NC_000012.11:g.110784071C>T , CM000674.1:g.110784071C>T GRCh37
NC_000012.10:g.109268454C>T NCBI36
NG_007097.2:g.69640C>T

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.2925C>T MANE Select NP_733765.1:p.Pro975=
ENST00000539276.7:c.2925C>T MANE Select ENSP00000440045.2:p.Pro975=
NM_001681.3:c.2925C>T NP_001672.1:p.Pro975=
NM_001681.4:c.2925C>T NP_001672.1:p.Pro975=
NM_170665.3:c.2925C>T NP_733765.1:p.Pro975=
ENST00000308664.10:c.2925C>T ENSP00000311186.6:p.Pro975=
ENST00000313432.5:n.748C>T
ENST00000377685.9:c.*2765C>T ENSP00000366913.4:n.*2765C>T
ENST00000539276.6:c.2925C>T ENSP00000440045.2:p.Pro975=
ENST00000548169.2:c.2596C>T
ENST00000553144.1:c.66C>T ENSP00000450407.2:p.Pro22=
XM_005253888.1:c.2925C>T XP_005253945.1:p.Pro975=
XM_005253888.3:c.2925C>T XP_005253945.1:p.Pro975=
XM_011538402.1:c.2925C>T XP_011536704.1:p.Pro975=
XM_011538402.3:c.2925C>T XP_011536704.1:p.Pro975=
XR_002957329.1:n.2931C>T
XR_243009.1:n.2931C>T
XR_243009.3:n.2931C>T