Canonical Allele Identifier: CA951739634

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1879761239
• gnomAD v3: 12-110345499-AAGG-A
• gnomAD v4: 12-110345499-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345502_110345504del , CM000674.2:g.110345502_110345504del	GRCh38
NC_000012.11:g.110783307_110783309del , CM000674.1:g.110783307_110783309del	GRCh37
NC_000012.10:g.109267690_109267692del	NCBI36
NG_007097.2:g.68876_68878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2741+120_2741+122del MANE Select	ENSP00000440045.2:n.2741+120_2741+122del
ENST00000308664.10:c.2741+120_2741+122del	ENSP00000311186.6:n.2741+120_2741+122del
ENST00000313432.5:n.66_68del
ENST00000377685.9:c.*2581+120_*2581+122del	ENSP00000366913.4:n.*2581+120_*2581+122del
ENST00000539276.6:c.2741+120_2741+122del	ENSP00000440045.2:n.2741+120_2741+122del
ENST00000548169.2:c.2412+120_2412+122del
NM_001681.3:c.2741+120_2741+122del	NP_001672.1:n.2741+120_2741+122del
NM_170665.3:c.2741+120_2741+122del	NP_733765.1:n.2741+120_2741+122del
XM_005253888.1:c.2741+120_2741+122del	XP_005253945.1:n.2741+120_2741+122del
XM_011538402.1:c.2741+120_2741+122del	XP_011536704.1:n.2741+120_2741+122del
XR_243009.1:n.2747+120_2747+122del
XM_005253888.3:c.2741+120_2741+122del	XP_005253945.1:n.2741+120_2741+122del
XM_011538402.3:c.2741+120_2741+122del	XP_011536704.1:n.2741+120_2741+122del
XR_002957329.1:n.2747+120_2747+122del
XR_243009.3:n.2747+120_2747+122del
NM_170665.4:c.2741+120_2741+122del MANE Select	NP_733765.1:n.2741+120_2741+122del
NM_001681.4:c.2741+120_2741+122del	NP_001672.1:n.2741+120_2741+122del