Canonical Allele Identifier: CA1156049981
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986618C= , CM000663.2:g.16986618C= GRCh38
NC_000001.10:g.17313113C= , CM000663.1:g.17313113C= GRCh37
NC_000001.9:g.17185700C= NCBI36
NG_009054.1:g.30311G=

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3250G= MANE Select ENSP00000327214.8:p.Ala1084=
ENST00000326735.12:c.3250G= ENSP00000327214.8:p.Ala1084=
ENST00000341676.9:c.3103+187G= ENSP00000341115.5:n.3103+187G=
ENST00000452699.5:c.3235G= ENSP00000413307.1:p.Ala1079=
ENST00000466561.1:n.1296G=
ENST00000502418.1:c.823+187G= ENSP00000423065.1:n.823+187G=
NM_001141973.2:c.3235G= NP_001135445.1:p.Ala1079=
NM_001141974.2:c.3103+187G= NP_001135446.1:n.3103+187G=
NM_022089.3:c.3250G= NP_071372.1:p.Ala1084=
XM_005245809.1:c.3235+187G= XP_005245866.1:n.3235+187G=
XM_005245810.1:c.3232+187G= XP_005245867.1:n.3232+187G=
XM_005245811.1:c.3220+187G= XP_005245868.1:n.3220+187G=
XM_005245812.1:c.3208+187G= XP_005245869.1:n.3208+187G=
XM_005245813.1:c.3175+187G= XP_005245870.1:n.3175+187G=
XM_005245815.1:c.3118+187G= XP_005245872.1:n.3118+187G=
XM_006710512.1:c.3217+187G= XP_006710575.1:n.3217+187G=
XM_006710513.1:c.3193+187G= XP_006710576.1:n.3193+187G=
XM_011541128.1:c.3220+187G= XP_011539430.1:n.3220+187G=
XM_011541129.1:c.3028+187G= XP_011539431.1:n.3028+187G=
XM_017000844.1:c.3235G= XP_016856333.1:p.Ala1079=
XM_017000845.1:c.3232G= XP_016856334.1:p.Ala1078=
XM_017000846.1:c.3208G= XP_016856335.1:p.Ala1070=
XM_017000847.1:c.3205G= XP_016856336.1:p.Ala1069=
XM_017000848.1:c.3133G= XP_016856337.1:p.Ala1045=
XM_017000849.1:c.3118G= XP_016856338.1:p.Ala1040=
XM_017000850.1:c.3043G= XP_016856339.1:p.Ala1015=
NM_022089.4:c.3250G= MANE Select NP_071372.1:p.Ala1084=
NM_001141973.3:c.3235G= NP_001135445.1:p.Ala1079=
NM_001141974.3:c.3103+187G= NP_001135446.1:n.3103+187G=