Canonical Allele Identifier: CA1145579017
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986291C= , CM000663.2:g.16986291C= GRCh38
NC_000001.10:g.17312786C= , CM000663.1:g.17312786C= GRCh37
NC_000001.9:g.17185373C= NCBI36
NG_009054.1:g.30638G=
NG_029688.1:g.296G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3473G= MANE Select ENSP00000327214.8:p.Arg1158=
ENST00000326735.12:c.3473G= ENSP00000327214.8:p.Arg1158=
ENST00000341676.9:c.3171G= ENSP00000341115.5:p.Ala1057=
ENST00000452699.5:c.3458G= ENSP00000413307.1:p.Arg1153=
ENST00000466561.1:n.1519G=
ENST00000502418.1:c.891G= ENSP00000423065.1:p.Ala297=
NM_001141973.2:c.3458G= NP_001135445.1:p.Arg1153=
NM_001141974.2:c.3171G= NP_001135446.1:p.Ala1057=
NM_022089.3:c.3473G= NP_071372.1:p.Arg1158=
XM_005245809.1:c.3303G= XP_005245866.1:p.Ala1101=
XM_005245810.1:c.3300G= XP_005245867.1:p.Ala1100=
XM_005245811.1:c.3288G= XP_005245868.1:p.Ala1096=
XM_005245812.1:c.3276G= XP_005245869.1:p.Ala1092=
XM_005245813.1:c.3243G= XP_005245870.1:p.Ala1081=
XM_005245815.1:c.3186G= XP_005245872.1:p.Ala1062=
XM_006710512.1:c.3285G= XP_006710575.1:p.Ala1095=
XM_006710513.1:c.3261G= XP_006710576.1:p.Ala1087=
XM_011541128.1:c.3288G= XP_011539430.1:p.Ala1096=
XM_011541129.1:c.3096G= XP_011539431.1:p.Ala1032=
XM_017000844.1:c.3458G= XP_016856333.1:p.Arg1153=
XM_017000845.1:c.3455G= XP_016856334.1:p.Arg1152=
XM_017000846.1:c.3431G= XP_016856335.1:p.Arg1144=
XM_017000847.1:c.3428G= XP_016856336.1:p.Arg1143=
XM_017000848.1:c.3356G= XP_016856337.1:p.Arg1119=
XM_017000849.1:c.3341G= XP_016856338.1:p.Arg1114=
XM_017000850.1:c.3266G= XP_016856339.1:p.Arg1089=
NM_022089.4:c.3473G= MANE Select NP_071372.1:p.Arg1158=
NM_001141973.3:c.3458G= NP_001135445.1:p.Arg1153=
NM_001141974.3:c.3171G= NP_001135446.1:p.Ala1057=