Canonical Allele Identifier: CA6784178

Gene: ATP2A2

Linked Data

• dbSNP Id: rs778579018
• ExAC: 12:110783138 A / G
• gnomAD v2: 12-110783138-A-G
• gnomAD v4: 12-110345333-A-G
• MyVariant Identifiers: chr12:g.110783138A>G (hg19) ; chr12:g.110345333A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345333A>G , CM000674.2:g.110345333A>G	GRCh38
NC_000012.11:g.110783138A>G , CM000674.1:g.110783138A>G	GRCh37
NC_000012.10:g.109267521A>G	NCBI36
NG_007097.2:g.68707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2692A>G MANE Select	ENSP00000440045.2:p.Met898Val
ENST00000308664.10:c.2692A>G	ENSP00000311186.6:p.Met898Val
ENST00000377685.9:c.*2532A>G	ENSP00000366913.4:n.*2532A>G
ENST00000539276.6:c.2692A>G	ENSP00000440045.2:p.Met898Val
ENST00000548169.2:c.2363A>G
NM_001681.3:c.2692A>G	NP_001672.1:p.Met898Val
NM_170665.3:c.2692A>G	NP_733765.1:p.Met898Val
XM_005253888.1:c.2692A>G	XP_005253945.1:p.Met898Val
XM_011538402.1:c.2692A>G	XP_011536704.1:p.Met898Val
XR_243009.1:n.2698A>G
XM_005253888.3:c.2692A>G	XP_005253945.1:p.Met898Val
XM_011538402.3:c.2692A>G	XP_011536704.1:p.Met898Val
XR_002957329.1:n.2698A>G
XR_243009.3:n.2698A>G
NM_170665.4:c.2692A>G MANE Select	NP_733765.1:p.Met898Val
NM_001681.4:c.2692A>G	NP_001672.1:p.Met898Val