Canonical Allele Identifier: CA1142410591
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986334C= , CM000663.2:g.16986334C= GRCh38
NC_000001.10:g.17312829C= , CM000663.1:g.17312829C= GRCh37
NC_000001.9:g.17185416C= NCBI36
NG_009054.1:g.30595G=
NG_029688.1:g.253G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3430G= MANE Select ENSP00000327214.8:p.Ala1144=
ENST00000326735.12:c.3430G= ENSP00000327214.8:p.Ala1144=
ENST00000341676.9:c.3128G= ENSP00000341115.5:p.Arg1043=
ENST00000452699.5:c.3415G= ENSP00000413307.1:p.Ala1139=
ENST00000466561.1:n.1476G=
ENST00000502418.1:c.848G= ENSP00000423065.1:p.Arg283=
NM_001141973.2:c.3415G= NP_001135445.1:p.Ala1139=
NM_001141974.2:c.3128G= NP_001135446.1:p.Arg1043=
NM_022089.3:c.3430G= NP_071372.1:p.Ala1144=
XM_005245809.1:c.3260G= XP_005245866.1:p.Arg1087=
XM_005245810.1:c.3257G= XP_005245867.1:p.Arg1086=
XM_005245811.1:c.3245G= XP_005245868.1:p.Arg1082=
XM_005245812.1:c.3233G= XP_005245869.1:p.Arg1078=
XM_005245813.1:c.3200G= XP_005245870.1:p.Arg1067=
XM_005245815.1:c.3143G= XP_005245872.1:p.Arg1048=
XM_006710512.1:c.3242G= XP_006710575.1:p.Arg1081=
XM_006710513.1:c.3218G= XP_006710576.1:p.Arg1073=
XM_011541128.1:c.3245G= XP_011539430.1:p.Arg1082=
XM_011541129.1:c.3053G= XP_011539431.1:p.Arg1018=
XM_017000844.1:c.3415G= XP_016856333.1:p.Ala1139=
XM_017000845.1:c.3412G= XP_016856334.1:p.Ala1138=
XM_017000846.1:c.3388G= XP_016856335.1:p.Ala1130=
XM_017000847.1:c.3385G= XP_016856336.1:p.Ala1129=
XM_017000848.1:c.3313G= XP_016856337.1:p.Ala1105=
XM_017000849.1:c.3298G= XP_016856338.1:p.Ala1100=
XM_017000850.1:c.3223G= XP_016856339.1:p.Ala1075=
NM_022089.4:c.3430G= MANE Select NP_071372.1:p.Ala1144=
NM_001141973.3:c.3415G= NP_001135445.1:p.Ala1139=
NM_001141974.3:c.3128G= NP_001135446.1:p.Arg1043=