Canonical Allele Identifier: CA338239723
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16989749A>C , CM000663.2:g.16989749A>C GRCh38
NC_000001.10:g.17316244A>C , CM000663.1:g.17316244A>C GRCh37
NC_000001.9:g.17188831A>C NCBI36
NG_009054.1:g.27180T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.2551T>G MANE Select ENSP00000327214.8:p.Phe851Val
ENST00000326735.12:c.2551T>G ENSP00000327214.8:p.Phe851Val
ENST00000341676.9:c.2419T>G ENSP00000341115.5:p.Phe807Val
ENST00000452699.5:c.2536T>G ENSP00000413307.1:p.Phe846Val
ENST00000466561.1:n.425T>G
ENST00000502418.1:c.139T>G ENSP00000423065.1:p.Phe47Val
NM_001141973.2:c.2536T>G NP_001135445.1:p.Phe846Val
NM_001141974.2:c.2419T>G NP_001135446.1:p.Phe807Val
NM_022089.3:c.2551T>G NP_071372.1:p.Phe851Val
XM_005245809.1:c.2551T>G XP_005245866.1:p.Phe851Val
XM_005245810.1:c.2548T>G XP_005245867.1:p.Phe850Val
XM_005245811.1:c.2536T>G XP_005245868.1:p.Phe846Val
XM_005245812.1:c.2524T>G XP_005245869.1:p.Phe842Val
XM_005245813.1:c.2491T>G XP_005245870.1:p.Phe831Val
XM_005245815.1:c.2434T>G XP_005245872.1:p.Phe812Val
XM_006710512.1:c.2533T>G XP_006710575.1:p.Phe845Val
XM_006710513.1:c.2509T>G XP_006710576.1:p.Phe837Val
XM_011541128.1:c.2536T>G XP_011539430.1:p.Phe846Val
XM_011541129.1:c.2344T>G XP_011539431.1:p.Phe782Val
XM_017000844.1:c.2536T>G XP_016856333.1:p.Phe846Val
XM_017000845.1:c.2533T>G XP_016856334.1:p.Phe845Val
XM_017000846.1:c.2509T>G XP_016856335.1:p.Phe837Val
XM_017000847.1:c.2506T>G XP_016856336.1:p.Phe836Val
XM_017000848.1:c.2434T>G XP_016856337.1:p.Phe812Val
XM_017000849.1:c.2419T>G XP_016856338.1:p.Phe807Val
XM_017000850.1:c.2344T>G XP_016856339.1:p.Phe782Val
NM_022089.4:c.2551T>G MANE Select NP_071372.1:p.Phe851Val
NM_001141973.3:c.2536T>G NP_001135445.1:p.Phe846Val
NM_001141974.3:c.2419T>G NP_001135446.1:p.Phe807Val