Canonical Allele Identifier: CA6784257
Gene: ATP2A2 HGNC NCBI
COSMIC:
COSM5840090 (not active)
MyVariant.info:
GRCh38 chr12:g.110346286C>T
GRCh37 chr12:g.110784091C>T
Revel Score:
ENST00000553144 0.341
ENST00000308664 0.401
ENST00000395494 0.401
ENST00000539276 (MANE Select) 0.401
gnomAD v2:
12:110784091 C / T
gnomAD v3:
12:110346286 C / T
gnomAD v4:
chr12-110346286-C-T
Joint Max Group AF 0.00038897 (NFE)
Genomes Max Group AF 0.0004568 (NFE)
Exomes Max Group AF 0.00037777 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110346286C>T , CM000674.2:g.110346286C>T GRCh38
NC_000012.11:g.110784091C>T , CM000674.1:g.110784091C>T GRCh37
NC_000012.10:g.109268474C>T NCBI36
NG_007097.2:g.69660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2945C>T MANE Select ENSP00000440045.2:p.Thr982Met
ENST00000308664.10:c.2945C>T ENSP00000311186.6:p.Thr982Met
ENST00000313432.5:n.768C>T
ENST00000377685.9:c.*2785C>T ENSP00000366913.4:n.*2785C>T
ENST00000539276.6:c.2945C>T ENSP00000440045.2:p.Thr982Met
ENST00000548169.2:c.2616C>T
ENST00000553144.1:c.86C>T ENSP00000450407.2:p.Thr29Met
NM_001681.3:c.2945C>T NP_001672.1:p.Thr982Met
NM_170665.3:c.2945C>T NP_733765.1:p.Thr982Met
XM_005253888.1:c.2945C>T XP_005253945.1:p.Thr982Met
XM_011538402.1:c.2945C>T XP_011536704.1:p.Thr982Met
XR_243009.1:n.2951C>T
XM_005253888.3:c.2945C>T XP_005253945.1:p.Thr982Met
XM_011538402.3:c.2945C>T XP_011536704.1:p.Thr982Met
XR_002957329.1:n.2951C>T
XR_243009.3:n.2951C>T
NM_170665.4:c.2945C>T MANE Select NP_733765.1:p.Thr982Met
NM_001681.4:c.2945C>T NP_001672.1:p.Thr982Met
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