Canonical Allele Identifier: CA1140610299
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986101T= , CM000663.2:g.16986101T= GRCh38
NC_000001.10:g.17312596T= , CM000663.1:g.17312596T= GRCh37
NC_000001.9:g.17185183T= NCBI36
NG_009054.1:g.30828A=
NG_029688.1:g.486A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.*120A= MANE Select ENSP00000327214.8:n.*120A=
ENST00000326735.12:c.*120A= ENSP00000327214.8:n.*120A=
ENST00000341676.9:c.3361A= ENSP00000341115.5:p.Thr1121=
ENST00000452699.5:c.*120A= ENSP00000413307.1:n.*120A=
ENST00000466561.1:n.1709A=
ENST00000502418.1:c.1081A= ENSP00000423065.1:p.Thr361=
NM_001141973.2:c.*120A= NP_001135445.1:n.*120A=
NM_001141974.2:c.3361A= NP_001135446.1:p.Thr1121=
NM_022089.3:c.*120A= NP_071372.1:n.*120A=
XM_005245809.1:c.3493A= XP_005245866.1:p.Thr1165=
XM_005245810.1:c.3490A= XP_005245867.1:p.Thr1164=
XM_005245811.1:c.3478A= XP_005245868.1:p.Thr1160=
XM_005245812.1:c.3466A= XP_005245869.1:p.Thr1156=
XM_005245813.1:c.3433A= XP_005245870.1:p.Thr1145=
XM_005245815.1:c.3376A= XP_005245872.1:p.Thr1126=
XM_006710512.1:c.3475A= XP_006710575.1:p.Thr1159=
XM_006710513.1:c.3451A= XP_006710576.1:p.Thr1151=
XM_011541128.1:c.3478A= XP_011539430.1:p.Thr1160=
XM_011541129.1:c.3286A= XP_011539431.1:p.Thr1096=
XM_017000844.1:c.*120A= XP_016856333.1:n.*120A=
XM_017000845.1:c.*120A= XP_016856334.1:n.*120A=
XM_017000846.1:c.*120A= XP_016856335.1:n.*120A=
XM_017000847.1:c.*120A= XP_016856336.1:n.*120A=
XM_017000848.1:c.*120A= XP_016856337.1:n.*120A=
XM_017000849.1:c.*120A= XP_016856338.1:n.*120A=
XM_017000850.1:c.*120A= XP_016856339.1:n.*120A=
NM_022089.4:c.*120A= MANE Select NP_071372.1:n.*120A=
NM_001141973.3:c.*120A= NP_001135445.1:n.*120A=
NM_001141974.3:c.3361A= NP_001135446.1:p.Thr1121=