Canonical Allele Identifier: CA683516137

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1448820927
• gnomAD v3: 12-110345573-CTG-C
• gnomAD v4: 12-110345573-CTG-C
• MyVariant Identifiers: chr12:g.110783379_110783380del (hg19) ; chr12:g.110345574_110345575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345577_110345578del , CM000674.2:g.110345577_110345578del	GRCh38
NC_000012.11:g.110783382_110783383del , CM000674.1:g.110783382_110783383del	GRCh37
NC_000012.10:g.109267765_109267766del	NCBI36
NG_007097.2:g.68951_68952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2741+195_2741+196del MANE Select	ENSP00000440045.2:n.2741+195_2741+196del
ENST00000308664.10:c.2741+195_2741+196del	ENSP00000311186.6:n.2741+195_2741+196del
ENST00000313432.5:n.141_142del
ENST00000377685.9:c.*2581+195_*2581+196del	ENSP00000366913.4:n.*2581+195_*2581+196del
ENST00000539276.6:c.2741+195_2741+196del	ENSP00000440045.2:n.2741+195_2741+196del
ENST00000548169.2:c.2412+195_2412+196del
NM_001681.3:c.2741+195_2741+196del	NP_001672.1:n.2741+195_2741+196del
NM_170665.3:c.2741+195_2741+196del	NP_733765.1:n.2741+195_2741+196del
XM_005253888.1:c.2741+195_2741+196del	XP_005253945.1:n.2741+195_2741+196del
XM_011538402.1:c.2741+195_2741+196del	XP_011536704.1:n.2741+195_2741+196del
XR_243009.1:n.2747+195_2747+196del
XM_005253888.3:c.2741+195_2741+196del	XP_005253945.1:n.2741+195_2741+196del
XM_011538402.3:c.2741+195_2741+196del	XP_011536704.1:n.2741+195_2741+196del
XR_002957329.1:n.2747+195_2747+196del
XR_243009.3:n.2747+195_2747+196del
NM_170665.4:c.2741+195_2741+196del MANE Select	NP_733765.1:n.2741+195_2741+196del
NM_001681.4:c.2741+195_2741+196del	NP_001672.1:n.2741+195_2741+196del