Canonical Allele Identifier: CA6784242

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 307185
• ClinVar RCV Id: RCV000359763 ; RCV000960169 ; RCV002259844
• dbSNP Id: rs372303998
• ExAC: 12:110783995 CTG / C
• gnomAD v2: 12-110783995-CTG-C
• gnomAD v3: 12-110346190-CTG-C
• gnomAD v4: 12-110346190-CTG-C
• MyVariant Identifiers: chr12:g.110784001_110784002del (hg19) ; chr12:g.110783996_110783997del (hg19) ; chr12:g.110346196_110346197del (hg38) ; chr12:g.110346192_110346193del (hg38) ; chr12:g.110346191_110346192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110346196_110346197del , CM000674.2:g.110346196_110346197del	GRCh38
NC_000012.11:g.110784001_110784002del , CM000674.1:g.110784001_110784002del	GRCh37
NC_000012.10:g.109268384_109268385del	NCBI36
NG_007097.2:g.69570_69571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2860-5_2860-4del MANE Select	ENSP00000440045.2:n.2860-5_2860-4del
ENST00000308664.10:c.2860-5_2860-4del	ENSP00000311186.6:n.2860-5_2860-4del
ENST00000313432.5:n.683-5_683-4del
ENST00000377685.9:c.*2700-5_*2700-4del	ENSP00000366913.4:n.*2700-5_*2700-4del
ENST00000539276.6:c.2860-5_2860-4del	ENSP00000440045.2:n.2860-5_2860-4del
ENST00000548169.2:c.2531-5_2531-4del
NM_001681.3:c.2860-5_2860-4del	NP_001672.1:n.2860-5_2860-4del
NM_170665.3:c.2860-5_2860-4del	NP_733765.1:n.2860-5_2860-4del
XM_005253888.1:c.2860-5_2860-4del	XP_005253945.1:n.2860-5_2860-4del
XM_011538402.1:c.2860-5_2860-4del	XP_011536704.1:n.2860-5_2860-4del
XR_243009.1:n.2866-5_2866-4del
XM_005253888.3:c.2860-5_2860-4del	XP_005253945.1:n.2860-5_2860-4del
XM_011538402.3:c.2860-5_2860-4del	XP_011536704.1:n.2860-5_2860-4del
XR_002957329.1:n.2866-5_2866-4del
XR_243009.3:n.2866-5_2866-4del
NM_170665.4:c.2860-5_2860-4del MANE Select	NP_733765.1:n.2860-5_2860-4del
NM_001681.4:c.2860-5_2860-4del	NP_001672.1:n.2860-5_2860-4del