Canonical Allele Identifier: CA1156049562
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986329G= , CM000663.2:g.16986329G= GRCh38
NC_000001.10:g.17312824G= , CM000663.1:g.17312824G= GRCh37
NC_000001.9:g.17185411G= NCBI36
NG_009054.1:g.30600C=
NG_029688.1:g.258C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3435C= MANE Select ENSP00000327214.8:p.Cys1145=
ENST00000326735.12:c.3435C= ENSP00000327214.8:p.Cys1145=
ENST00000341676.9:c.3133C= ENSP00000341115.5:p.Pro1045=
ENST00000452699.5:c.3420C= ENSP00000413307.1:p.Cys1140=
ENST00000466561.1:n.1481C=
ENST00000502418.1:c.853C= ENSP00000423065.1:p.Pro285=
NM_001141973.2:c.3420C= NP_001135445.1:p.Cys1140=
NM_001141974.2:c.3133C= NP_001135446.1:p.Pro1045=
NM_022089.3:c.3435C= NP_071372.1:p.Cys1145=
XM_005245809.1:c.3265C= XP_005245866.1:p.Pro1089=
XM_005245810.1:c.3262C= XP_005245867.1:p.Pro1088=
XM_005245811.1:c.3250C= XP_005245868.1:p.Pro1084=
XM_005245812.1:c.3238C= XP_005245869.1:p.Pro1080=
XM_005245813.1:c.3205C= XP_005245870.1:p.Pro1069=
XM_005245815.1:c.3148C= XP_005245872.1:p.Pro1050=
XM_006710512.1:c.3247C= XP_006710575.1:p.Pro1083=
XM_006710513.1:c.3223C= XP_006710576.1:p.Pro1075=
XM_011541128.1:c.3250C= XP_011539430.1:p.Pro1084=
XM_011541129.1:c.3058C= XP_011539431.1:p.Pro1020=
XM_017000844.1:c.3420C= XP_016856333.1:p.Cys1140=
XM_017000845.1:c.3417C= XP_016856334.1:p.Cys1139=
XM_017000846.1:c.3393C= XP_016856335.1:p.Cys1131=
XM_017000847.1:c.3390C= XP_016856336.1:p.Cys1130=
XM_017000848.1:c.3318C= XP_016856337.1:p.Cys1106=
XM_017000849.1:c.3303C= XP_016856338.1:p.Cys1101=
XM_017000850.1:c.3228C= XP_016856339.1:p.Cys1076=
NM_022089.4:c.3435C= MANE Select NP_071372.1:p.Cys1145=
NM_001141973.3:c.3420C= NP_001135445.1:p.Cys1140=
NM_001141974.3:c.3133C= NP_001135446.1:p.Pro1045=