Canonical Allele Identifier: CA1156048735
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986055C= , CM000663.2:g.16986055C= GRCh38
NC_000001.10:g.17312550C= , CM000663.1:g.17312550C= GRCh37
NC_000001.9:g.17185137C= NCBI36
NG_009054.1:g.30874G=
NG_029688.1:g.532G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.*166G= MANE Select ENSP00000327214.8:n.*166G=
ENST00000326735.12:c.*166G= ENSP00000327214.8:n.*166G=
ENST00000341676.9:c.3407G= ENSP00000341115.5:p.Cys1136=
ENST00000452699.5:c.*166G= ENSP00000413307.1:n.*166G=
ENST00000466561.1:n.1755G=
ENST00000502418.1:c.1127G= ENSP00000423065.1:p.Cys376=
NM_001141973.2:c.*166G= NP_001135445.1:n.*166G=
NM_001141974.2:c.3407G= NP_001135446.1:p.Cys1136=
NM_022089.3:c.*166G= NP_071372.1:n.*166G=
XM_005245809.1:c.3539G= XP_005245866.1:p.Cys1180=
XM_005245810.1:c.3536G= XP_005245867.1:p.Cys1179=
XM_005245811.1:c.3524G= XP_005245868.1:p.Cys1175=
XM_005245812.1:c.3512G= XP_005245869.1:p.Cys1171=
XM_005245813.1:c.3479G= XP_005245870.1:p.Cys1160=
XM_005245815.1:c.3422G= XP_005245872.1:p.Cys1141=
XM_006710512.1:c.3521G= XP_006710575.1:p.Cys1174=
XM_006710513.1:c.3497G= XP_006710576.1:p.Cys1166=
XM_011541128.1:c.3524G= XP_011539430.1:p.Cys1175=
XM_011541129.1:c.3332G= XP_011539431.1:p.Cys1111=
XM_017000844.1:c.*166G= XP_016856333.1:n.*166G=
XM_017000845.1:c.*166G= XP_016856334.1:n.*166G=
XM_017000846.1:c.*166G= XP_016856335.1:n.*166G=
XM_017000847.1:c.*166G= XP_016856336.1:n.*166G=
XM_017000848.1:c.*166G= XP_016856337.1:n.*166G=
XM_017000849.1:c.*166G= XP_016856338.1:n.*166G=
XM_017000850.1:c.*166G= XP_016856339.1:n.*166G=
NM_022089.4:c.*166G= MANE Select NP_071372.1:n.*166G=
NM_001141973.3:c.*166G= NP_001135445.1:n.*166G=
NM_001141974.3:c.3407G= NP_001135446.1:p.Cys1136=