Canonical Allele Identifier: CA6784017

Gene: ATP2A2

Linked Data

• dbSNP Id: rs779445588
• ExAC: 12:110778701 G / T
• gnomAD v2: 12-110778701-G-T
• gnomAD v3: 12-110340896-G-T
• gnomAD v4: 12-110340896-G-T
• MyVariant Identifiers: chr12:g.110778701G>T (hg19) ; chr12:g.110340896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340896G>T , CM000674.2:g.110340896G>T	GRCh38
NC_000012.11:g.110778701G>T , CM000674.1:g.110778701G>T	GRCh37
NC_000012.10:g.109263084G>T	NCBI36
NG_007097.2:g.64270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1999G>T MANE Select	ENSP00000440045.2:p.Asp667Tyr
ENST00000308664.10:c.1999G>T	ENSP00000311186.6:p.Asp667Tyr
ENST00000377685.9:c.*1839G>T	ENSP00000366913.4:n.*1839G>T
ENST00000539276.6:c.1999G>T	ENSP00000440045.2:p.Asp667Tyr
ENST00000548169.2:c.1670G>T
NM_001681.3:c.1999G>T	NP_001672.1:p.Asp667Tyr
NM_170665.3:c.1999G>T	NP_733765.1:p.Asp667Tyr
XM_005253888.1:c.1999G>T	XP_005253945.1:p.Asp667Tyr
XM_011538402.1:c.1999G>T	XP_011536704.1:p.Asp667Tyr
XM_011538403.1:c.1999G>T	XP_011536705.1:p.Asp667Tyr
XR_243009.1:n.2005G>T
XM_005253888.3:c.1999G>T	XP_005253945.1:p.Asp667Tyr
XM_011538402.3:c.1999G>T	XP_011536704.1:p.Asp667Tyr
XR_002957329.1:n.2005G>T
XR_243009.3:n.2005G>T
NM_170665.4:c.1999G>T MANE Select	NP_733765.1:p.Asp667Tyr
NM_001681.4:c.1999G>T	NP_001672.1:p.Asp667Tyr