Canonical Allele Identifier: CA1144362453
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986355C= , CM000663.2:g.16986355C= GRCh38
NC_000001.10:g.17312850C= , CM000663.1:g.17312850C= GRCh37
NC_000001.9:g.17185437C= NCBI36
NG_009054.1:g.30574G=
NG_029688.1:g.232G=

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3409G= MANE Select ENSP00000327214.8:p.Val1137=
ENST00000326735.12:c.3409G= ENSP00000327214.8:p.Val1137=
ENST00000341676.9:c.3107G= ENSP00000341115.5:p.Arg1036=
ENST00000452699.5:c.3394G= ENSP00000413307.1:p.Val1132=
ENST00000466561.1:n.1455G=
ENST00000502418.1:c.827G= ENSP00000423065.1:p.Arg276=
NM_001141973.2:c.3394G= NP_001135445.1:p.Val1132=
NM_001141974.2:c.3107G= NP_001135446.1:p.Arg1036=
NM_022089.3:c.3409G= NP_071372.1:p.Val1137=
XM_005245809.1:c.3239G= XP_005245866.1:p.Arg1080=
XM_005245810.1:c.3236G= XP_005245867.1:p.Arg1079=
XM_005245811.1:c.3224G= XP_005245868.1:p.Arg1075=
XM_005245812.1:c.3212G= XP_005245869.1:p.Arg1071=
XM_005245813.1:c.3179G= XP_005245870.1:p.Arg1060=
XM_005245815.1:c.3122G= XP_005245872.1:p.Arg1041=
XM_006710512.1:c.3221G= XP_006710575.1:p.Arg1074=
XM_006710513.1:c.3197G= XP_006710576.1:p.Arg1066=
XM_011541128.1:c.3224G= XP_011539430.1:p.Arg1075=
XM_011541129.1:c.3032G= XP_011539431.1:p.Arg1011=
XM_017000844.1:c.3394G= XP_016856333.1:p.Val1132=
XM_017000845.1:c.3391G= XP_016856334.1:p.Val1131=
XM_017000846.1:c.3367G= XP_016856335.1:p.Val1123=
XM_017000847.1:c.3364G= XP_016856336.1:p.Val1122=
XM_017000848.1:c.3292G= XP_016856337.1:p.Val1098=
XM_017000849.1:c.3277G= XP_016856338.1:p.Val1093=
XM_017000850.1:c.3202G= XP_016856339.1:p.Val1068=
NM_022089.4:c.3409G= MANE Select NP_071372.1:p.Val1137=
NM_001141973.3:c.3394G= NP_001135445.1:p.Val1132=
NM_001141974.3:c.3107G= NP_001135446.1:p.Arg1036=