Canonical Allele Identifier: CA1156049381
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986265C= , CM000663.2:g.16986265C= GRCh38
NC_000001.10:g.17312760C= , CM000663.1:g.17312760C= GRCh37
NC_000001.9:g.17185347C= NCBI36
NG_009054.1:g.30664G=
NG_029688.1:g.322G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3499G= MANE Select ENSP00000327214.8:p.Ala1167=
ENST00000326735.12:c.3499G= ENSP00000327214.8:p.Ala1167=
ENST00000341676.9:c.3197G= ENSP00000341115.5:p.Gly1066=
ENST00000452699.5:c.3484G= ENSP00000413307.1:p.Ala1162=
ENST00000466561.1:n.1545G=
ENST00000502418.1:c.917G= ENSP00000423065.1:p.Gly306=
NM_001141973.2:c.3484G= NP_001135445.1:p.Ala1162=
NM_001141974.2:c.3197G= NP_001135446.1:p.Gly1066=
NM_022089.3:c.3499G= NP_071372.1:p.Ala1167=
XM_005245809.1:c.3329G= XP_005245866.1:p.Gly1110=
XM_005245810.1:c.3326G= XP_005245867.1:p.Gly1109=
XM_005245811.1:c.3314G= XP_005245868.1:p.Gly1105=
XM_005245812.1:c.3302G= XP_005245869.1:p.Gly1101=
XM_005245813.1:c.3269G= XP_005245870.1:p.Gly1090=
XM_005245815.1:c.3212G= XP_005245872.1:p.Gly1071=
XM_006710512.1:c.3311G= XP_006710575.1:p.Gly1104=
XM_006710513.1:c.3287G= XP_006710576.1:p.Gly1096=
XM_011541128.1:c.3314G= XP_011539430.1:p.Gly1105=
XM_011541129.1:c.3122G= XP_011539431.1:p.Gly1041=
XM_017000844.1:c.3484G= XP_016856333.1:p.Ala1162=
XM_017000845.1:c.3481G= XP_016856334.1:p.Ala1161=
XM_017000846.1:c.3457G= XP_016856335.1:p.Ala1153=
XM_017000847.1:c.3454G= XP_016856336.1:p.Ala1152=
XM_017000848.1:c.3382G= XP_016856337.1:p.Ala1128=
XM_017000849.1:c.3367G= XP_016856338.1:p.Ala1123=
XM_017000850.1:c.3292G= XP_016856339.1:p.Ala1098=
NM_022089.4:c.3499G= MANE Select NP_071372.1:p.Ala1167=
NM_001141973.3:c.3484G= NP_001135445.1:p.Ala1162=
NM_001141974.3:c.3197G= NP_001135446.1:p.Gly1066=