Canonical Allele Identifier: CA607318153

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1293605339
• gnomAD v2: 12-110783440-A-AC
• gnomAD v3: 12-110345635-A-AC
• gnomAD v4: 12-110345635-A-AC
• MyVariant Identifiers: chr12:g.110783440_110783441insC (hg19) ; chr12:g.110345635_110345636insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345639dup , CM000674.2:g.110345639dup	GRCh38
NC_000012.11:g.110783444dup , CM000674.1:g.110783444dup	GRCh37
NC_000012.10:g.109267827dup	NCBI36
NG_007097.2:g.69013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2741+257dup MANE Select	ENSP00000440045.2:n.2741+257dup
ENST00000308664.10:c.2741+257dup	ENSP00000311186.6:n.2741+257dup
ENST00000313432.5:n.203dup
ENST00000377685.9:c.*2581+257dup	ENSP00000366913.4:n.*2581+257dup
ENST00000539276.6:c.2741+257dup	ENSP00000440045.2:n.2741+257dup
ENST00000548169.2:c.2412+257dup
NM_001681.3:c.2741+257dup	NP_001672.1:n.2741+257dup
NM_170665.3:c.2741+257dup	NP_733765.1:n.2741+257dup
XM_005253888.1:c.2741+257dup	XP_005253945.1:n.2741+257dup
XM_011538402.1:c.2741+257dup	XP_011536704.1:n.2741+257dup
XR_243009.1:n.2747+257dup
XM_005253888.3:c.2741+257dup	XP_005253945.1:n.2741+257dup
XM_011538402.3:c.2741+257dup	XP_011536704.1:n.2741+257dup
XR_002957329.1:n.2747+257dup
XR_243009.3:n.2747+257dup
NM_170665.4:c.2741+257dup MANE Select	NP_733765.1:n.2741+257dup
NM_001681.4:c.2741+257dup	NP_001672.1:n.2741+257dup