Canonical Allele Identifier: CA151961
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128474
dbSNP Id: rs151181674

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986334C>T , CM000663.2:g.16986334C>T GRCh38
NC_000001.10:g.17312829C>T , CM000663.1:g.17312829C>T GRCh37
NC_000001.9:g.17185416C>T NCBI36
NG_009054.1:g.30595G>A
NG_029688.1:g.253G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3430G>A MANE Select ENSP00000327214.8:p.Ala1144Thr
ENST00000326735.12:c.3430G>A ENSP00000327214.8:p.Ala1144Thr
ENST00000341676.9:c.3128G>A ENSP00000341115.5:p.Arg1043His
ENST00000452699.5:c.3415G>A ENSP00000413307.1:p.Ala1139Thr
ENST00000466561.1:n.1476G>A
ENST00000502418.1:n.848G>A ENSP00000423065.1:p.Arg283His
NM_001141973.2:c.3415G>A NP_001135445.1:p.Ala1139Thr
NM_001141974.2:c.3128G>A NP_001135446.1:p.Arg1043His
NM_022089.3:c.3430G>A NP_071372.1:p.Ala1144Thr
XM_005245809.1:c.3260G>A XP_005245866.1:p.Arg1087His
XM_005245810.1:c.3257G>A XP_005245867.1:p.Arg1086His
XM_005245811.1:c.3245G>A XP_005245868.1:p.Arg1082His
XM_005245812.1:c.3233G>A XP_005245869.1:p.Arg1078His
XM_005245813.1:c.3200G>A XP_005245870.1:p.Arg1067His
XM_005245815.1:c.3143G>A XP_005245872.1:p.Arg1048His
XM_006710512.1:c.3242G>A XP_006710575.1:p.Arg1081His
XM_006710513.1:c.3218G>A XP_006710576.1:p.Arg1073His
XM_011541128.1:c.3245G>A XP_011539430.1:p.Arg1082His
XM_011541129.1:c.3053G>A XP_011539431.1:p.Arg1018His
XM_017000844.1:c.3415G>A XP_016856333.1:p.Ala1139Thr
XM_017000845.1:c.3412G>A XP_016856334.1:p.Ala1138Thr
XM_017000846.1:c.3388G>A XP_016856335.1:p.Ala1130Thr
XM_017000847.1:c.3385G>A XP_016856336.1:p.Ala1129Thr
XM_017000848.1:c.3313G>A XP_016856337.1:p.Ala1105Thr
XM_017000849.1:c.3298G>A XP_016856338.1:p.Ala1100Thr
XM_017000850.1:c.3223G>A XP_016856339.1:p.Ala1075Thr
NM_022089.4:c.3430G>A MANE Select NP_071372.1:p.Ala1144Thr
NM_001141973.3:c.3415G>A NP_001135445.1:p.Ala1139Thr
NM_001141974.3:c.3128G>A NP_001135446.1:p.Arg1043His