Canonical Allele Identifier: CA338239341

Gene: ATP13A2

Linked Data

• dbSNP Id: rs753813388
• gnomAD v4: 1-16989719-C-T
• MyVariant Identifiers: chr1:g.17316214C>T (hg19) ; chr1:g.16989719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989719C>T , CM000663.2:g.16989719C>T	GRCh38
NC_000001.10:g.17316214C>T , CM000663.1:g.17316214C>T	GRCh37
NC_000001.9:g.17188801C>T	NCBI36
NG_009054.1:g.27210G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2581G>A MANE Select	ENSP00000327214.8:p.Glu861Lys
ENST00000326735.12:c.2581G>A	ENSP00000327214.8:p.Glu861Lys
ENST00000341676.9:c.2449G>A	ENSP00000341115.5:p.Glu817Lys
ENST00000452699.5:c.2566G>A	ENSP00000413307.1:p.Glu856Lys
ENST00000466561.1:n.455G>A
ENST00000502418.1:c.169G>A	ENSP00000423065.1:p.Glu57Lys
NM_001141973.2:c.2566G>A	NP_001135445.1:p.Glu856Lys
NM_001141974.2:c.2449G>A	NP_001135446.1:p.Glu817Lys
NM_022089.3:c.2581G>A	NP_071372.1:p.Glu861Lys
XM_005245809.1:c.2581G>A	XP_005245866.1:p.Glu861Lys
XM_005245810.1:c.2578G>A	XP_005245867.1:p.Glu860Lys
XM_005245811.1:c.2566G>A	XP_005245868.1:p.Glu856Lys
XM_005245812.1:c.2554G>A	XP_005245869.1:p.Glu852Lys
XM_005245813.1:c.2521G>A	XP_005245870.1:p.Glu841Lys
XM_005245815.1:c.2464G>A	XP_005245872.1:p.Glu822Lys
XM_006710512.1:c.2563G>A	XP_006710575.1:p.Glu855Lys
XM_006710513.1:c.2539G>A	XP_006710576.1:p.Glu847Lys
XM_011541128.1:c.2566G>A	XP_011539430.1:p.Glu856Lys
XM_011541129.1:c.2374G>A	XP_011539431.1:p.Glu792Lys
XM_017000844.1:c.2566G>A	XP_016856333.1:p.Glu856Lys
XM_017000845.1:c.2563G>A	XP_016856334.1:p.Glu855Lys
XM_017000846.1:c.2539G>A	XP_016856335.1:p.Glu847Lys
XM_017000847.1:c.2536G>A	XP_016856336.1:p.Glu846Lys
XM_017000848.1:c.2464G>A	XP_016856337.1:p.Glu822Lys
XM_017000849.1:c.2449G>A	XP_016856338.1:p.Glu817Lys
XM_017000850.1:c.2374G>A	XP_016856339.1:p.Glu792Lys
NM_022089.4:c.2581G>A MANE Select	NP_071372.1:p.Glu861Lys
NM_001141973.3:c.2566G>A	NP_001135445.1:p.Glu856Lys
NM_001141974.3:c.2449G>A	NP_001135446.1:p.Glu817Lys