Canonical Allele Identifier: CA338239686
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16989746C>T , CM000663.2:g.16989746C>T GRCh38
NC_000001.10:g.17316241C>T , CM000663.1:g.17316241C>T GRCh37
NC_000001.9:g.17188828C>T NCBI36
NG_009054.1:g.27183G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.2554G>A MANE Select ENSP00000327214.8:p.Ala852Thr
ENST00000326735.12:c.2554G>A ENSP00000327214.8:p.Ala852Thr
ENST00000341676.9:c.2422G>A ENSP00000341115.5:p.Ala808Thr
ENST00000452699.5:c.2539G>A ENSP00000413307.1:p.Ala847Thr
ENST00000466561.1:n.428G>A
ENST00000502418.1:c.142G>A ENSP00000423065.1:p.Ala48Thr
NM_001141973.2:c.2539G>A NP_001135445.1:p.Ala847Thr
NM_001141974.2:c.2422G>A NP_001135446.1:p.Ala808Thr
NM_022089.3:c.2554G>A NP_071372.1:p.Ala852Thr
XM_005245809.1:c.2554G>A XP_005245866.1:p.Ala852Thr
XM_005245810.1:c.2551G>A XP_005245867.1:p.Ala851Thr
XM_005245811.1:c.2539G>A XP_005245868.1:p.Ala847Thr
XM_005245812.1:c.2527G>A XP_005245869.1:p.Ala843Thr
XM_005245813.1:c.2494G>A XP_005245870.1:p.Ala832Thr
XM_005245815.1:c.2437G>A XP_005245872.1:p.Ala813Thr
XM_006710512.1:c.2536G>A XP_006710575.1:p.Ala846Thr
XM_006710513.1:c.2512G>A XP_006710576.1:p.Ala838Thr
XM_011541128.1:c.2539G>A XP_011539430.1:p.Ala847Thr
XM_011541129.1:c.2347G>A XP_011539431.1:p.Ala783Thr
XM_017000844.1:c.2539G>A XP_016856333.1:p.Ala847Thr
XM_017000845.1:c.2536G>A XP_016856334.1:p.Ala846Thr
XM_017000846.1:c.2512G>A XP_016856335.1:p.Ala838Thr
XM_017000847.1:c.2509G>A XP_016856336.1:p.Ala837Thr
XM_017000848.1:c.2437G>A XP_016856337.1:p.Ala813Thr
XM_017000849.1:c.2422G>A XP_016856338.1:p.Ala808Thr
XM_017000850.1:c.2347G>A XP_016856339.1:p.Ala783Thr
NM_022089.4:c.2554G>A MANE Select NP_071372.1:p.Ala852Thr
NM_001141973.3:c.2539G>A NP_001135445.1:p.Ala847Thr
NM_001141974.3:c.2422G>A NP_001135446.1:p.Ala808Thr