Canonical Allele Identifier: CA338239827

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1335403183
• gnomAD v4: 1-16989760-T-C
• MyVariant Identifiers: chr1:g.17316255T>C (hg19) ; chr1:g.16989760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989760T>C , CM000663.2:g.16989760T>C	GRCh38
NC_000001.10:g.17316255T>C , CM000663.1:g.17316255T>C	GRCh37
NC_000001.9:g.17188842T>C	NCBI36
NG_009054.1:g.27169A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2540A>G MANE Select	ENSP00000327214.8:p.Gln847Arg
ENST00000326735.12:c.2540A>G	ENSP00000327214.8:p.Gln847Arg
ENST00000341676.9:c.2408A>G	ENSP00000341115.5:p.Gln803Arg
ENST00000452699.5:c.2525A>G	ENSP00000413307.1:p.Gln842Arg
ENST00000466561.1:n.414A>G
ENST00000502418.1:c.128A>G	ENSP00000423065.1:p.Gln43Arg
NM_001141973.2:c.2525A>G	NP_001135445.1:p.Gln842Arg
NM_001141974.2:c.2408A>G	NP_001135446.1:p.Gln803Arg
NM_022089.3:c.2540A>G	NP_071372.1:p.Gln847Arg
XM_005245809.1:c.2540A>G	XP_005245866.1:p.Gln847Arg
XM_005245810.1:c.2537A>G	XP_005245867.1:p.Gln846Arg
XM_005245811.1:c.2525A>G	XP_005245868.1:p.Gln842Arg
XM_005245812.1:c.2513A>G	XP_005245869.1:p.Gln838Arg
XM_005245813.1:c.2480A>G	XP_005245870.1:p.Gln827Arg
XM_005245815.1:c.2423A>G	XP_005245872.1:p.Gln808Arg
XM_006710512.1:c.2522A>G	XP_006710575.1:p.Gln841Arg
XM_006710513.1:c.2498A>G	XP_006710576.1:p.Gln833Arg
XM_011541128.1:c.2525A>G	XP_011539430.1:p.Gln842Arg
XM_011541129.1:c.2333A>G	XP_011539431.1:p.Gln778Arg
XM_017000844.1:c.2525A>G	XP_016856333.1:p.Gln842Arg
XM_017000845.1:c.2522A>G	XP_016856334.1:p.Gln841Arg
XM_017000846.1:c.2498A>G	XP_016856335.1:p.Gln833Arg
XM_017000847.1:c.2495A>G	XP_016856336.1:p.Gln832Arg
XM_017000848.1:c.2423A>G	XP_016856337.1:p.Gln808Arg
XM_017000849.1:c.2408A>G	XP_016856338.1:p.Gln803Arg
XM_017000850.1:c.2333A>G	XP_016856339.1:p.Gln778Arg
NM_022089.4:c.2540A>G MANE Select	NP_071372.1:p.Gln847Arg
NM_001141973.3:c.2525A>G	NP_001135445.1:p.Gln842Arg
NM_001141974.3:c.2408A>G	NP_001135446.1:p.Gln803Arg