Canonical Allele Identifier: CA10640153
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 307153
ClinVar RCV Id: RCV000327914
dbSNP Id: rs558822961
gnomAD v2: 12-110719321-G-C
gnomAD v3: 12-110281516-G-C
gnomAD v4: 12-110281516-G-C
MyVariant Identifiers: chr12:g.110719321G>C (hg19) chr12:g.110281516G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110281516G>C , CM000674.2:g.110281516G>C GRCh38
NC_000012.11:g.110719321G>C , CM000674.1:g.110719321G>C GRCh37
NC_000012.10:g.109203704G>C NCBI36
NG_007097.2:g.4890G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000552636.2:c.-258+552G>C ENSP00000447406.2:n.-258+552G>C
ENST00000539276.7:c.-274G>C MANE Select ENSP00000440045.2:n.-274G>C
ENST00000308664.10:c.-274G>C ENSP00000311186.6:n.-274G>C
ENST00000377685.9:c.-274G>C ENSP00000366913.4:n.-274G>C
ENST00000552636.1:c.-184+552G>C ENSP00000447406.1:n.-184+552G>C
NM_001681.3:c.-274G>C NP_001672.1:n.-274G>C
NM_170665.3:c.-274G>C NP_733765.1:n.-274G>C
NM_170665.4:c.-274G>C MANE Select NP_733765.1:n.-274G>C
NM_001681.4:c.-274G>C NP_001672.1:n.-274G>C
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