Canonical Allele Identifier: CA16619432
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419479
ClinVar RCV Id: RCV000483431
dbSNP Id: rs1064793900
MyVariant Identifiers: chr12:g.110777095C>T (hg19) chr12:g.110339290C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110339290C>T , CM000674.2:g.110339290C>T GRCh38
NC_000012.11:g.110777095C>T , CM000674.1:g.110777095C>T GRCh37
NC_000012.10:g.109261478C>T NCBI36
NG_007097.2:g.62664C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.1429C>T MANE Select ENSP00000440045.2:p.Gln477Ter
ENST00000308664.10:c.1429C>T ENSP00000311186.6:p.Gln477Ter
ENST00000377685.9:c.*1269C>T ENSP00000366913.4:n.*1269C>T
ENST00000539276.6:c.1429C>T ENSP00000440045.2:p.Gln477Ter
ENST00000548169.2:c.1100C>T
NM_001681.3:c.1429C>T NP_001672.1:p.Gln477Ter
NM_170665.3:c.1429C>T NP_733765.1:p.Gln477Ter
XM_005253888.1:c.1429C>T XP_005253945.1:p.Gln477Ter
XM_011538402.1:c.1429C>T XP_011536704.1:p.Gln477Ter
XM_011538403.1:c.1429C>T XP_011536705.1:p.Gln477Ter
XR_243009.1:n.1435C>T
XM_005253888.3:c.1429C>T XP_005253945.1:p.Gln477Ter
XM_011538402.3:c.1429C>T XP_011536704.1:p.Gln477Ter
XR_002957329.1:n.1435C>T
XR_243009.3:n.1435C>T
NM_170665.4:c.1429C>T MANE Select NP_733765.1:p.Gln477Ter
NM_001681.4:c.1429C>T NP_001672.1:p.Gln477Ter
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Search 100 bp 3'