Canonical Allele Identifier: CA1156048614
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986020T= , CM000663.2:g.16986020T= GRCh38
NC_000001.10:g.17312515T= , CM000663.1:g.17312515T= GRCh37
NC_000001.9:g.17185102T= NCBI36
NG_009054.1:g.30909A=
NG_029688.1:g.567A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.*201A= MANE Select ENSP00000327214.8:n.*201A=
ENST00000326735.12:c.*201A= ENSP00000327214.8:n.*201A=
ENST00000341676.9:c.3442A= ENSP00000341115.5:p.Ser1148=
ENST00000452699.5:c.*201A= ENSP00000413307.1:n.*201A=
ENST00000466561.1:n.1790A=
ENST00000502418.1:c.1162A= ENSP00000423065.1:p.Ser388=
NM_001141973.2:c.*201A= NP_001135445.1:n.*201A=
NM_001141974.2:c.3442A= NP_001135446.1:p.Ser1148=
NM_022089.3:c.*201A= NP_071372.1:n.*201A=
XM_005245809.1:c.3574A= XP_005245866.1:p.Ser1192=
XM_005245810.1:c.3571A= XP_005245867.1:p.Ser1191=
XM_005245811.1:c.3559A= XP_005245868.1:p.Ser1187=
XM_005245812.1:c.3547A= XP_005245869.1:p.Ser1183=
XM_005245813.1:c.3514A= XP_005245870.1:p.Ser1172=
XM_005245815.1:c.3457A= XP_005245872.1:p.Ser1153=
XM_006710512.1:c.3556A= XP_006710575.1:p.Ser1186=
XM_006710513.1:c.3532A= XP_006710576.1:p.Ser1178=
XM_011541128.1:c.3559A= XP_011539430.1:p.Ser1187=
XM_011541129.1:c.3367A= XP_011539431.1:p.Ser1123=
XM_017000844.1:c.*201A= XP_016856333.1:n.*201A=
XM_017000845.1:c.*201A= XP_016856334.1:n.*201A=
XM_017000846.1:c.*201A= XP_016856335.1:n.*201A=
XM_017000847.1:c.*201A= XP_016856336.1:n.*201A=
XM_017000848.1:c.*201A= XP_016856337.1:n.*201A=
XM_017000849.1:c.*201A= XP_016856338.1:n.*201A=
XM_017000850.1:c.*201A= XP_016856339.1:n.*201A=
NM_022089.4:c.*201A= MANE Select NP_071372.1:n.*201A=
NM_001141973.3:c.*201A= NP_001135445.1:n.*201A=
NM_001141974.3:c.3442A= NP_001135446.1:p.Ser1148=