Canonical Allele Identifier: CA1156049442
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986283G= , CM000663.2:g.16986283G= GRCh38
NC_000001.10:g.17312778G= , CM000663.1:g.17312778G= GRCh37
NC_000001.9:g.17185365G= NCBI36
NG_009054.1:g.30646C=
NG_029688.1:g.304C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3481C= MANE Select ENSP00000327214.8:p.Gln1161=
ENST00000326735.12:c.3481C= ENSP00000327214.8:p.Gln1161=
ENST00000341676.9:c.3179C= ENSP00000341115.5:p.Ala1060=
ENST00000452699.5:c.3466C= ENSP00000413307.1:p.Gln1156=
ENST00000466561.1:n.1527C=
ENST00000502418.1:c.899C= ENSP00000423065.1:p.Ala300=
NM_001141973.2:c.3466C= NP_001135445.1:p.Gln1156=
NM_001141974.2:c.3179C= NP_001135446.1:p.Ala1060=
NM_022089.3:c.3481C= NP_071372.1:p.Gln1161=
XM_005245809.1:c.3311C= XP_005245866.1:p.Ala1104=
XM_005245810.1:c.3308C= XP_005245867.1:p.Ala1103=
XM_005245811.1:c.3296C= XP_005245868.1:p.Ala1099=
XM_005245812.1:c.3284C= XP_005245869.1:p.Ala1095=
XM_005245813.1:c.3251C= XP_005245870.1:p.Ala1084=
XM_005245815.1:c.3194C= XP_005245872.1:p.Ala1065=
XM_006710512.1:c.3293C= XP_006710575.1:p.Ala1098=
XM_006710513.1:c.3269C= XP_006710576.1:p.Ala1090=
XM_011541128.1:c.3296C= XP_011539430.1:p.Ala1099=
XM_011541129.1:c.3104C= XP_011539431.1:p.Ala1035=
XM_017000844.1:c.3466C= XP_016856333.1:p.Gln1156=
XM_017000845.1:c.3463C= XP_016856334.1:p.Gln1155=
XM_017000846.1:c.3439C= XP_016856335.1:p.Gln1147=
XM_017000847.1:c.3436C= XP_016856336.1:p.Gln1146=
XM_017000848.1:c.3364C= XP_016856337.1:p.Gln1122=
XM_017000849.1:c.3349C= XP_016856338.1:p.Gln1117=
XM_017000850.1:c.3274C= XP_016856339.1:p.Gln1092=
NM_022089.4:c.3481C= MANE Select NP_071372.1:p.Gln1161=
NM_001141973.3:c.3466C= NP_001135445.1:p.Gln1156=
NM_001141974.3:c.3179C= NP_001135446.1:p.Ala1060=