Canonical Allele Identifier: CA636659

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16987177C>T , CM000663.2:g.16987177C>T	GRCh38
NC_000001.10:g.17313672C>T , CM000663.1:g.17313672C>T	GRCh37
NC_000001.9:g.17186259C>T	NCBI36
NG_009054.1:g.29752G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.2952G>A MANE Select	NP_071372.1:p.Ala984=
ENST00000326735.13:c.2952G>A MANE Select	ENSP00000327214.8:p.Ala984=
NM_001141973.2:c.2937G>A	NP_001135445.1:p.Ala979=
NM_001141973.3:c.2937G>A	NP_001135445.1:p.Ala979=
NM_001141974.2:c.2820G>A	NP_001135446.1:p.Ala940=
NM_001141974.3:c.2820G>A	NP_001135446.1:p.Ala940=
NM_022089.3:c.2952G>A	NP_071372.1:p.Ala984=
ENST00000326735.12:c.2952G>A	ENSP00000327214.8:p.Ala984=
ENST00000341676.9:c.2820G>A	ENSP00000341115.5:p.Ala940=
ENST00000452699.5:c.2937G>A	ENSP00000413307.1:p.Ala979=
ENST00000466561.1:n.826G>A
ENST00000502418.1:c.540G>A	ENSP00000423065.1:p.Ala180=
XM_005245809.1:c.2952G>A	XP_005245866.1:p.Ala984=
XM_005245810.1:c.2949G>A	XP_005245867.1:p.Ala983=
XM_005245811.1:c.2937G>A	XP_005245868.1:p.Ala979=
XM_005245812.1:c.2925G>A	XP_005245869.1:p.Ala975=
XM_005245813.1:c.2892G>A	XP_005245870.1:p.Ala964=
XM_005245815.1:c.2835G>A	XP_005245872.1:p.Ala945=
XM_006710512.1:c.2934G>A	XP_006710575.1:p.Ala978=
XM_006710513.1:c.2910G>A	XP_006710576.1:p.Ala970=
XM_011541128.1:c.2937G>A	XP_011539430.1:p.Ala979=
XM_011541129.1:c.2745G>A	XP_011539431.1:p.Ala915=
XM_017000844.1:c.2937G>A	XP_016856333.1:p.Ala979=
XM_017000845.1:c.2934G>A	XP_016856334.1:p.Ala978=
XM_017000846.1:c.2910G>A	XP_016856335.1:p.Ala970=
XM_017000847.1:c.2907G>A	XP_016856336.1:p.Ala969=
XM_017000848.1:c.2835G>A	XP_016856337.1:p.Ala945=
XM_017000849.1:c.2820G>A	XP_016856338.1:p.Ala940=
XM_017000850.1:c.2745G>A	XP_016856339.1:p.Ala915=