Canonical Allele Identifier: CA1156049425
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986281C= , CM000663.2:g.16986281C= GRCh38
NC_000001.10:g.17312776C= , CM000663.1:g.17312776C= GRCh37
NC_000001.9:g.17185363C= NCBI36
NG_009054.1:g.30648G=
NG_029688.1:g.306G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3483G= MANE Select ENSP00000327214.8:p.Gln1161=
ENST00000326735.12:c.3483G= ENSP00000327214.8:p.Gln1161=
ENST00000341676.9:c.3181G= ENSP00000341115.5:p.Ala1061=
ENST00000452699.5:c.3468G= ENSP00000413307.1:p.Gln1156=
ENST00000466561.1:n.1529G=
ENST00000502418.1:c.901G= ENSP00000423065.1:p.Ala301=
NM_001141973.2:c.3468G= NP_001135445.1:p.Gln1156=
NM_001141974.2:c.3181G= NP_001135446.1:p.Ala1061=
NM_022089.3:c.3483G= NP_071372.1:p.Gln1161=
XM_005245809.1:c.3313G= XP_005245866.1:p.Ala1105=
XM_005245810.1:c.3310G= XP_005245867.1:p.Ala1104=
XM_005245811.1:c.3298G= XP_005245868.1:p.Ala1100=
XM_005245812.1:c.3286G= XP_005245869.1:p.Ala1096=
XM_005245813.1:c.3253G= XP_005245870.1:p.Ala1085=
XM_005245815.1:c.3196G= XP_005245872.1:p.Ala1066=
XM_006710512.1:c.3295G= XP_006710575.1:p.Ala1099=
XM_006710513.1:c.3271G= XP_006710576.1:p.Ala1091=
XM_011541128.1:c.3298G= XP_011539430.1:p.Ala1100=
XM_011541129.1:c.3106G= XP_011539431.1:p.Ala1036=
XM_017000844.1:c.3468G= XP_016856333.1:p.Gln1156=
XM_017000845.1:c.3465G= XP_016856334.1:p.Gln1155=
XM_017000846.1:c.3441G= XP_016856335.1:p.Gln1147=
XM_017000847.1:c.3438G= XP_016856336.1:p.Gln1146=
XM_017000848.1:c.3366G= XP_016856337.1:p.Gln1122=
XM_017000849.1:c.3351G= XP_016856338.1:p.Gln1117=
XM_017000850.1:c.3276G= XP_016856339.1:p.Gln1092=
NM_022089.4:c.3483G= MANE Select NP_071372.1:p.Gln1161=
NM_001141973.3:c.3468G= NP_001135445.1:p.Gln1156=
NM_001141974.3:c.3181G= NP_001135446.1:p.Ala1061=