Canonical Allele Identifier: CA6784168

Gene: ATP2A2

Linked Data

• dbSNP Id: rs761683385
• ExAC: 12:110783058 A / G
• gnomAD v2: 12-110783058-A-G
• gnomAD v4: 12-110345253-A-G
• MyVariant Identifiers: chr12:g.110783058A>G (hg19) ; chr12:g.110345253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345253A>G , CM000674.2:g.110345253A>G	GRCh38
NC_000012.11:g.110783058A>G , CM000674.1:g.110783058A>G	GRCh37
NC_000012.10:g.109267441A>G	NCBI36
NG_007097.2:g.68627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2612A>G MANE Select	ENSP00000440045.2:p.His871Arg
ENST00000308664.10:c.2612A>G	ENSP00000311186.6:p.His871Arg
ENST00000377685.9:c.*2452A>G	ENSP00000366913.4:n.*2452A>G
ENST00000539276.6:c.2612A>G	ENSP00000440045.2:p.His871Arg
ENST00000548169.2:c.2283A>G
NM_001681.3:c.2612A>G	NP_001672.1:p.His871Arg
NM_170665.3:c.2612A>G	NP_733765.1:p.His871Arg
XM_005253888.1:c.2612A>G	XP_005253945.1:p.His871Arg
XM_011538402.1:c.2612A>G	XP_011536704.1:p.His871Arg
XR_243009.1:n.2618A>G
XM_005253888.3:c.2612A>G	XP_005253945.1:p.His871Arg
XM_011538402.3:c.2612A>G	XP_011536704.1:p.His871Arg
XR_002957329.1:n.2618A>G
XR_243009.3:n.2618A>G
NM_170665.4:c.2612A>G MANE Select	NP_733765.1:p.His871Arg
NM_001681.4:c.2612A>G	NP_001672.1:p.His871Arg