Canonical Allele Identifier: CA913777014

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1566242787
• gnomAD v2: 12-110783444-CT-C
• gnomAD v3: 12-110345639-CT-C
• gnomAD v4: 12-110345639-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345640del , CM000674.2:g.110345640del	GRCh38
NC_000012.11:g.110783445del , CM000674.1:g.110783445del	GRCh37
NC_000012.10:g.109267828del	NCBI36
NG_007097.2:g.69014del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2741+258del MANE Select	ENSP00000440045.2:n.2741+258del
ENST00000308664.10:c.2741+258del	ENSP00000311186.6:n.2741+258del
ENST00000313432.5:n.204del
ENST00000377685.9:c.*2581+258del	ENSP00000366913.4:n.*2581+258del
ENST00000539276.6:c.2741+258del	ENSP00000440045.2:n.2741+258del
ENST00000548169.2:c.2412+258del
NM_001681.3:c.2741+258del	NP_001672.1:n.2741+258del
NM_170665.3:c.2741+258del	NP_733765.1:n.2741+258del
XM_005253888.1:c.2741+258del	XP_005253945.1:n.2741+258del
XM_011538402.1:c.2741+258del	XP_011536704.1:n.2741+258del
XR_243009.1:n.2747+258del
XM_005253888.3:c.2741+258del	XP_005253945.1:n.2741+258del
XM_011538402.3:c.2741+258del	XP_011536704.1:n.2741+258del
XR_002957329.1:n.2747+258del
XR_243009.3:n.2747+258del
NM_170665.4:c.2741+258del MANE Select	NP_733765.1:n.2741+258del
NM_001681.4:c.2741+258del	NP_001672.1:n.2741+258del