Canonical Allele Identifier: CA6783629

Gene: ATP2A2

Linked Data

• dbSNP Id: rs369002442
• ExAC: 12:110720607 A / G
• gnomAD v4: 12-110282802-A-G
• MyVariant Identifiers: chr12:g.110720607A>G (hg19) ; chr12:g.110282802A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110282802A>G , CM000674.2:g.110282802A>G	GRCh38
NC_000012.11:g.110720607A>G , CM000674.1:g.110720607A>G	GRCh37
NC_000012.10:g.109204990A>G	NCBI36
NG_007097.2:g.6176A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000552636.2:c.-157+7A>G	ENSP00000447406.2:n.-157+7A>G
ENST00000539276.7:c.219+7A>G MANE Select	ENSP00000440045.2:n.219+7A>G
ENST00000308664.10:c.219+7A>G	ENSP00000311186.6:n.219+7A>G
ENST00000377685.9:c.*59+7A>G	ENSP00000366913.4:n.*59+7A>G
ENST00000539276.6:c.219+7A>G	ENSP00000440045.2:n.219+7A>G
ENST00000552636.1:c.-83+7A>G	ENSP00000447406.1:n.-83+7A>G
NM_001681.3:c.219+7A>G	NP_001672.1:n.219+7A>G
NM_170665.3:c.219+7A>G	NP_733765.1:n.219+7A>G
XM_005253888.1:c.219+7A>G	XP_005253945.1:n.219+7A>G
XM_011538402.1:c.219+7A>G	XP_011536704.1:n.219+7A>G
XM_011538403.1:c.219+7A>G	XP_011536705.1:n.219+7A>G
XR_243009.1:n.225+7A>G
XM_005253888.3:c.219+7A>G	XP_005253945.1:n.219+7A>G
XM_011538402.3:c.219+7A>G	XP_011536704.1:n.219+7A>G
XR_002957329.1:n.225+7A>G
XR_243009.3:n.225+7A>G
NM_170665.4:c.219+7A>G MANE Select	NP_733765.1:n.219+7A>G
NM_001681.4:c.219+7A>G	NP_001672.1:n.219+7A>G