Canonical Allele Identifier: CA951739481

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1879717346
• gnomAD v3: 12-110345083-T-TA
• gnomAD v4: 12-110345083-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345084dup , CM000674.2:g.110345084dup	GRCh38
NC_000012.11:g.110782889dup , CM000674.1:g.110782889dup	GRCh37
NC_000012.10:g.109267272dup	NCBI36
NG_007097.2:g.68458dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2607+113dup MANE Select	ENSP00000440045.2:n.2607+113dup
ENST00000308664.10:c.2607+113dup	ENSP00000311186.6:n.2607+113dup
ENST00000377685.9:c.*2447+113dup	ENSP00000366913.4:n.*2447+113dup
ENST00000539276.6:c.2607+113dup	ENSP00000440045.2:n.2607+113dup
ENST00000547792.1:n.378dup
ENST00000548169.2:c.2278+113dup
NM_001681.3:c.2607+113dup	NP_001672.1:n.2607+113dup
NM_170665.3:c.2607+113dup	NP_733765.1:n.2607+113dup
XM_005253888.1:c.2607+113dup	XP_005253945.1:n.2607+113dup
XM_011538402.1:c.2607+113dup	XP_011536704.1:n.2607+113dup
XR_243009.1:n.2613+113dup
XM_005253888.3:c.2607+113dup	XP_005253945.1:n.2607+113dup
XM_011538402.3:c.2607+113dup	XP_011536704.1:n.2607+113dup
XR_002957329.1:n.2613+113dup
XR_243009.3:n.2613+113dup
NM_170665.4:c.2607+113dup MANE Select	NP_733765.1:n.2607+113dup
NM_001681.4:c.2607+113dup	NP_001672.1:n.2607+113dup