Canonical Allele Identifier: CA6783565

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 307158
• ClinVar RCV Id: RCV000279704 ; RCV000434109 ; RCV002259834 ; RCV002494959 ; RCV003391082
• dbSNP Id: rs201929640
• ExAC: 12:110719585 C / G
• gnomAD v2: 12-110719585-C-G
• gnomAD v3: 12-110281780-C-G
• gnomAD v4: 12-110281780-C-G
• MyVariant Identifiers: chr12:g.110719585C>G (hg19) ; chr12:g.110281780C>G (hg38)
• PubMed: PMID:7706479 ; PMID:17116488

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110281780C>G , CM000674.2:g.110281780C>G	GRCh38
NC_000012.11:g.110719585C>G , CM000674.1:g.110719585C>G	GRCh37
NC_000012.10:g.109203968C>G	NCBI36
NG_007097.2:g.5154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552636.2:c.-258+816C>G	ENSP00000447406.2:n.-258+816C>G
ENST00000539276.7:c.-10C>G MANE Select	ENSP00000440045.2:n.-10C>G
ENST00000308664.10:c.-10C>G	ENSP00000311186.6:n.-10C>G
ENST00000377685.9:c.-10C>G	ENSP00000366913.4:n.-10C>G
ENST00000539276.6:c.-10C>G	ENSP00000440045.2:n.-10C>G
ENST00000552636.1:c.-184+816C>G	ENSP00000447406.1:n.-184+816C>G
NM_001681.3:c.-10C>G	NP_001672.1:n.-10C>G
NM_170665.3:c.-10C>G	NP_733765.1:n.-10C>G
NM_170665.4:c.-10C>G MANE Select	NP_733765.1:n.-10C>G
NM_001681.4:c.-10C>G	NP_001672.1:n.-10C>G