Canonical Allele Identifier: CA1144065394
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986197G= , CM000663.2:g.16986197G= GRCh38
NC_000001.10:g.17312692G= , CM000663.1:g.17312692G= GRCh37
NC_000001.9:g.17185279G= NCBI36
NG_009054.1:g.30732C=
NG_029688.1:g.390C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.*24C= MANE Select ENSP00000327214.8:n.*24C=
ENST00000326735.12:c.*24C= ENSP00000327214.8:n.*24C=
ENST00000341676.9:c.3265C= ENSP00000341115.5:p.His1089=
ENST00000452699.5:c.*24C= ENSP00000413307.1:n.*24C=
ENST00000466561.1:n.1613C=
ENST00000502418.1:c.985C= ENSP00000423065.1:p.His329=
NM_001141973.2:c.*24C= NP_001135445.1:n.*24C=
NM_001141974.2:c.3265C= NP_001135446.1:p.His1089=
NM_022089.3:c.*24C= NP_071372.1:n.*24C=
XM_005245809.1:c.3397C= XP_005245866.1:p.His1133=
XM_005245810.1:c.3394C= XP_005245867.1:p.His1132=
XM_005245811.1:c.3382C= XP_005245868.1:p.His1128=
XM_005245812.1:c.3370C= XP_005245869.1:p.His1124=
XM_005245813.1:c.3337C= XP_005245870.1:p.His1113=
XM_005245815.1:c.3280C= XP_005245872.1:p.His1094=
XM_006710512.1:c.3379C= XP_006710575.1:p.His1127=
XM_006710513.1:c.3355C= XP_006710576.1:p.His1119=
XM_011541128.1:c.3382C= XP_011539430.1:p.His1128=
XM_011541129.1:c.3190C= XP_011539431.1:p.His1064=
XM_017000844.1:c.*24C= XP_016856333.1:n.*24C=
XM_017000845.1:c.*24C= XP_016856334.1:n.*24C=
XM_017000846.1:c.*24C= XP_016856335.1:n.*24C=
XM_017000847.1:c.*24C= XP_016856336.1:n.*24C=
XM_017000848.1:c.*24C= XP_016856337.1:n.*24C=
XM_017000849.1:c.*24C= XP_016856338.1:n.*24C=
XM_017000850.1:c.*24C= XP_016856339.1:n.*24C=
NM_022089.4:c.*24C= MANE Select NP_071372.1:n.*24C=
NM_001141973.3:c.*24C= NP_001135445.1:n.*24C=
NM_001141974.3:c.3265C= NP_001135446.1:p.His1089=