Canonical Allele Identifier: CA16042856
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373006
ClinVar RCV Id: RCV000414184
dbSNP Id: rs1057518135
MyVariant Identifiers: chr12:g.110760800G>T (hg19) chr12:g.110322995G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110322995G>T , CM000674.2:g.110322995G>T GRCh38
NC_000012.11:g.110760800G>T , CM000674.1:g.110760800G>T GRCh37
NC_000012.10:g.109245183G>T NCBI36
NG_007097.2:g.46369G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.467G>T MANE Select ENSP00000440045.2:p.Gly156Val
ENST00000308664.10:c.467G>T ENSP00000311186.6:p.Gly156Val
ENST00000377685.9:c.*307G>T ENSP00000366913.4:n.*307G>T
ENST00000539276.6:c.467G>T ENSP00000440045.2:p.Gly156Val
ENST00000548169.2:c.216-3395G>T
ENST00000550248.2:n.467G>T
NM_001681.3:c.467G>T NP_001672.1:p.Gly156Val
NM_170665.3:c.467G>T NP_733765.1:p.Gly156Val
XM_005253888.1:c.467G>T XP_005253945.1:p.Gly156Val
XM_011538402.1:c.467G>T XP_011536704.1:p.Gly156Val
XM_011538403.1:c.467G>T XP_011536705.1:p.Gly156Val
XR_243009.1:n.473G>T
XM_005253888.3:c.467G>T XP_005253945.1:p.Gly156Val
XM_011538402.3:c.467G>T XP_011536704.1:p.Gly156Val
XR_002957329.1:n.473G>T
XR_243009.3:n.473G>T
NM_170665.4:c.467G>T MANE Select NP_733765.1:p.Gly156Val
NM_001681.4:c.467G>T NP_001672.1:p.Gly156Val
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