Canonical Allele Identifier: CA6783577
Gene: ATP2A2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.110281883C>T
GRCh37 chr12:g.110719688C>T
Revel Score:
ENST00000308664 0.213
ENST00000395494 0.213
ENST00000539276 (MANE Select) 0.213
gnomAD v2:
12:110719688 C / T
gnomAD v3:
12:110281883 C / T
gnomAD v4:
chr12-110281883-C-T
Joint Max Group AF 0.00059865 (NFE)
Genomes Max Group AF 0.00044403 (NFE)
Exomes Max Group AF 0.00060111 (NFE)
ClinVar RCV:
RCV000403131
RCV002522220
ClinVar Variation:
307160
dbSNP:
141335001
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110281883C>T , CM000674.2:g.110281883C>T GRCh38
NC_000012.11:g.110719688C>T , CM000674.1:g.110719688C>T GRCh37
NC_000012.10:g.109204071C>T NCBI36
NG_007097.2:g.5257C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000552636.2:c.-257-721C>T ENSP00000447406.2:n.-257-721C>T
ENST00000539276.7:c.94C>T MANE Select ENSP00000440045.2:p.Leu32Phe
ENST00000308664.10:c.94C>T ENSP00000311186.6:p.Leu32Phe
ENST00000377685.9:c.94C>T ENSP00000366913.4:p.Leu32Phe
ENST00000539276.6:c.94C>T ENSP00000440045.2:p.Leu32Phe
ENST00000552636.1:c.-183-721C>T ENSP00000447406.1:n.-183-721C>T
NM_001681.3:c.94C>T NP_001672.1:p.Leu32Phe
NM_170665.3:c.94C>T NP_733765.1:p.Leu32Phe
XM_005253888.1:c.94C>T XP_005253945.1:p.Leu32Phe
XM_011538402.1:c.94C>T XP_011536704.1:p.Leu32Phe
XM_011538403.1:c.94C>T XP_011536705.1:p.Leu32Phe
XR_243009.1:n.100C>T
XM_005253888.3:c.94C>T XP_005253945.1:p.Leu32Phe
XM_011538402.3:c.94C>T XP_011536704.1:p.Leu32Phe
XR_002957329.1:n.100C>T
XR_243009.3:n.100C>T
NM_170665.4:c.94C>T MANE Select NP_733765.1:p.Leu32Phe
NM_001681.4:c.94C>T NP_001672.1:p.Leu32Phe
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