Canonical Allele Identifier: CA264800
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 66099
ClinVar RCV Id: RCV000056336
dbSNP Id: rs144701072
gnomAD v2: 1-17314950-C-T
gnomAD v3: 1-16988455-C-T
gnomAD v4: 1-16988455-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16988455C>T , CM000663.2:g.16988455C>T GRCh38
NC_000001.10:g.17314950C>T , CM000663.1:g.17314950C>T GRCh37
NC_000001.9:g.17187537C>T NCBI36
NG_009054.1:g.28474G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.2629G>A MANE Select ENSP00000327214.8:p.Gly877Arg
ENST00000326735.12:c.2629G>A ENSP00000327214.8:p.Gly877Arg
ENST00000341676.9:c.2497G>A ENSP00000341115.5:p.Gly833Arg
ENST00000452699.5:c.2614G>A ENSP00000413307.1:p.Gly872Arg
ENST00000466561.1:n.503G>A
ENST00000502418.1:c.217G>A ENSP00000423065.1:p.Gly73Arg
NM_001141973.2:c.2614G>A NP_001135445.1:p.Gly872Arg
NM_001141974.2:c.2497G>A NP_001135446.1:p.Gly833Arg
NM_022089.3:c.2629G>A NP_071372.1:p.Gly877Arg
XM_005245809.1:c.2629G>A XP_005245866.1:p.Gly877Arg
XM_005245810.1:c.2626G>A XP_005245867.1:p.Gly876Arg
XM_005245811.1:c.2614G>A XP_005245868.1:p.Gly872Arg
XM_005245812.1:c.2602G>A XP_005245869.1:p.Gly868Arg
XM_005245813.1:c.2569G>A XP_005245870.1:p.Gly857Arg
XM_005245815.1:c.2512G>A XP_005245872.1:p.Gly838Arg
XM_006710512.1:c.2611G>A XP_006710575.1:p.Gly871Arg
XM_006710513.1:c.2587G>A XP_006710576.1:p.Gly863Arg
XM_011541128.1:c.2614G>A XP_011539430.1:p.Gly872Arg
XM_011541129.1:c.2422G>A XP_011539431.1:p.Gly808Arg
XM_017000844.1:c.2614G>A XP_016856333.1:p.Gly872Arg
XM_017000845.1:c.2611G>A XP_016856334.1:p.Gly871Arg
XM_017000846.1:c.2587G>A XP_016856335.1:p.Gly863Arg
XM_017000847.1:c.2584G>A XP_016856336.1:p.Gly862Arg
XM_017000848.1:c.2512G>A XP_016856337.1:p.Gly838Arg
XM_017000849.1:c.2497G>A XP_016856338.1:p.Gly833Arg
XM_017000850.1:c.2422G>A XP_016856339.1:p.Gly808Arg
NM_022089.4:c.2629G>A MANE Select NP_071372.1:p.Gly877Arg
NM_001141973.3:c.2614G>A NP_001135445.1:p.Gly872Arg
NM_001141974.3:c.2497G>A NP_001135446.1:p.Gly833Arg