Canonical Allele Identifier: CA1156049617
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986346G= , CM000663.2:g.16986346G= GRCh38
NC_000001.10:g.17312841G= , CM000663.1:g.17312841G= GRCh37
NC_000001.9:g.17185428G= NCBI36
NG_009054.1:g.30583C=
NG_029688.1:g.241C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3418C= MANE Select ENSP00000327214.8:p.Gln1140=
ENST00000326735.12:c.3418C= ENSP00000327214.8:p.Gln1140=
ENST00000341676.9:c.3116C= ENSP00000341115.5:p.Pro1039=
ENST00000452699.5:c.3403C= ENSP00000413307.1:p.Gln1135=
ENST00000466561.1:n.1464C=
ENST00000502418.1:c.836C= ENSP00000423065.1:p.Pro279=
NM_001141973.2:c.3403C= NP_001135445.1:p.Gln1135=
NM_001141974.2:c.3116C= NP_001135446.1:p.Pro1039=
NM_022089.3:c.3418C= NP_071372.1:p.Gln1140=
XM_005245809.1:c.3248C= XP_005245866.1:p.Pro1083=
XM_005245810.1:c.3245C= XP_005245867.1:p.Pro1082=
XM_005245811.1:c.3233C= XP_005245868.1:p.Pro1078=
XM_005245812.1:c.3221C= XP_005245869.1:p.Pro1074=
XM_005245813.1:c.3188C= XP_005245870.1:p.Pro1063=
XM_005245815.1:c.3131C= XP_005245872.1:p.Pro1044=
XM_006710512.1:c.3230C= XP_006710575.1:p.Pro1077=
XM_006710513.1:c.3206C= XP_006710576.1:p.Pro1069=
XM_011541128.1:c.3233C= XP_011539430.1:p.Pro1078=
XM_011541129.1:c.3041C= XP_011539431.1:p.Pro1014=
XM_017000844.1:c.3403C= XP_016856333.1:p.Gln1135=
XM_017000845.1:c.3400C= XP_016856334.1:p.Gln1134=
XM_017000846.1:c.3376C= XP_016856335.1:p.Gln1126=
XM_017000847.1:c.3373C= XP_016856336.1:p.Gln1125=
XM_017000848.1:c.3301C= XP_016856337.1:p.Gln1101=
XM_017000849.1:c.3286C= XP_016856338.1:p.Gln1096=
XM_017000850.1:c.3211C= XP_016856339.1:p.Gln1071=
NM_022089.4:c.3418C= MANE Select NP_071372.1:p.Gln1140=
NM_001141973.3:c.3403C= NP_001135445.1:p.Gln1135=
NM_001141974.3:c.3116C= NP_001135446.1:p.Pro1039=