Canonical Allele Identifier: CA10636507
Community Standard Title: NM_170665.4(ATP2A2):c.*3983A>C
Gene: ATP2A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110350453A>C , CM000674.2:g.110350453A>C GRCh38
NC_000012.11:g.110788258A>C , CM000674.1:g.110788258A>C GRCh37
NC_000012.10:g.109272641A>C NCBI36
NG_007097.2:g.73827A>C

Transcript Alleles

HGVS Amino-acid Change
NM_170665.4:c.*3983A>C MANE Select NP_733765.1:n.*3983A>C
ENST00000539276.7:c.*3983A>C MANE Select ENSP00000440045.2:n.*3983A>C
NM_001681.3:c.*148A>C NP_001672.1:n.*148A>C
NM_001681.4:c.*148A>C NP_001672.1:n.*148A>C
NM_170665.3:c.*3983A>C NP_733765.1:n.*3983A>C
ENST00000308664.10:c.*148A>C ENSP00000311186.6:n.*148A>C
ENST00000313432.5:n.4935A>C
ENST00000377685.9:c.*4452A>C ENSP00000366913.4:n.*4452A>C
XM_005253888.1:c.*203A>C XP_005253945.1:n.*203A>C
XM_005253888.3:c.*203A>C XP_005253945.1:n.*203A>C
XR_002957329.1:n.4618A>C
XR_243009.1:n.3547A>C
XR_243009.3:n.3547A>C