Canonical Allele Identifier: CA127427
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17799
ClinVar RCV Id: RCV000019377 RCV001650836
dbSNP Id: rs121912737
MyVariant Identifiers: chr12:g.110778507C>T (hg19) chr12:g.110340702C>T (hg38)
PubMed: PMID:12542527
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110340702C>T , CM000674.2:g.110340702C>T GRCh38
NC_000012.11:g.110778507C>T , CM000674.1:g.110778507C>T GRCh37
NC_000012.10:g.109262890C>T NCBI36
NG_007097.2:g.64076C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.1805C>T MANE Select ENSP00000440045.2:p.Pro602Leu
ENST00000308664.10:c.1805C>T ENSP00000311186.6:p.Pro602Leu
ENST00000377685.9:c.*1645C>T ENSP00000366913.4:n.*1645C>T
ENST00000539276.6:c.1805C>T ENSP00000440045.2:p.Pro602Leu
ENST00000548169.2:c.1476C>T
NM_001681.3:c.1805C>T NP_001672.1:p.Pro602Leu
NM_170665.3:c.1805C>T NP_733765.1:p.Pro602Leu
XM_005253888.1:c.1805C>T XP_005253945.1:p.Pro602Leu
XM_011538402.1:c.1805C>T XP_011536704.1:p.Pro602Leu
XM_011538403.1:c.1805C>T XP_011536705.1:p.Pro602Leu
XR_243009.1:n.1811C>T
XM_005253888.3:c.1805C>T XP_005253945.1:p.Pro602Leu
XM_011538402.3:c.1805C>T XP_011536704.1:p.Pro602Leu
XR_002957329.1:n.1811C>T
XR_243009.3:n.1811C>T
NM_170665.4:c.1805C>T MANE Select NP_733765.1:p.Pro602Leu
NM_001681.4:c.1805C>T NP_001672.1:p.Pro602Leu
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