Canonical Allele Identifier: CA1141257832
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986541C= , CM000663.2:g.16986541C= GRCh38
NC_000001.10:g.17313036C= , CM000663.1:g.17313036C= GRCh37
NC_000001.9:g.17185623C= NCBI36
NG_009054.1:g.30388G=
NG_029688.1:g.46G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3327G= MANE Select ENSP00000327214.8:p.Arg1109=
ENST00000326735.12:c.3327G= ENSP00000327214.8:p.Arg1109=
ENST00000341676.9:c.3104-183G= ENSP00000341115.5:n.3104-183G=
ENST00000452699.5:c.3312G= ENSP00000413307.1:p.Arg1104=
ENST00000466561.1:n.1373G=
ENST00000502418.1:c.824-183G= ENSP00000423065.1:n.824-183G=
NM_001141973.2:c.3312G= NP_001135445.1:p.Arg1104=
NM_001141974.2:c.3104-183G= NP_001135446.1:n.3104-183G=
NM_022089.3:c.3327G= NP_071372.1:p.Arg1109=
XM_005245809.1:c.3236-183G= XP_005245866.1:n.3236-183G=
XM_005245810.1:c.3233-183G= XP_005245867.1:n.3233-183G=
XM_005245811.1:c.3221-183G= XP_005245868.1:n.3221-183G=
XM_005245812.1:c.3209-183G= XP_005245869.1:n.3209-183G=
XM_005245813.1:c.3176-183G= XP_005245870.1:n.3176-183G=
XM_005245815.1:c.3119-183G= XP_005245872.1:n.3119-183G=
XM_006710512.1:c.3218-183G= XP_006710575.1:n.3218-183G=
XM_006710513.1:c.3194-183G= XP_006710576.1:n.3194-183G=
XM_011541128.1:c.3221-183G= XP_011539430.1:n.3221-183G=
XM_011541129.1:c.3029-183G= XP_011539431.1:n.3029-183G=
XM_017000844.1:c.3312G= XP_016856333.1:p.Arg1104=
XM_017000845.1:c.3309G= XP_016856334.1:p.Arg1103=
XM_017000846.1:c.3285G= XP_016856335.1:p.Arg1095=
XM_017000847.1:c.3282G= XP_016856336.1:p.Arg1094=
XM_017000848.1:c.3210G= XP_016856337.1:p.Arg1070=
XM_017000849.1:c.3195G= XP_016856338.1:p.Arg1065=
XM_017000850.1:c.3120G= XP_016856339.1:p.Arg1040=
NM_022089.4:c.3327G= MANE Select NP_071372.1:p.Arg1109=
NM_001141973.3:c.3312G= NP_001135445.1:p.Arg1104=
NM_001141974.3:c.3104-183G= NP_001135446.1:n.3104-183G=