Canonical Allele Identifier: CA259916
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30834
ClinVar RCV Id: RCV000023819
dbSNP Id: rs587776890

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16989748_16989749del , CM000663.2:g.16989748_16989749del GRCh38
NC_000001.10:g.17316243_17316244del , CM000663.1:g.17316243_17316244del GRCh37
NC_000001.9:g.17188830_17188831del NCBI36
NG_009054.1:g.27181_27182del

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.2552_2553del MANE Select ENSP00000327214.8:p.Phe851CysfsTer6
ENST00000326735.12:c.2552_2553del ENSP00000327214.8:p.Phe851CysfsTer6
ENST00000341676.9:c.2420_2421del ENSP00000341115.5:p.Phe807CysfsTer6
ENST00000452699.5:c.2537_2538del ENSP00000413307.1:p.Phe846CysfsTer6
ENST00000466561.1:n.426_427del
ENST00000502418.1:n.140_141del ENSP00000423065.1:p.Phe47CysfsTer6
NM_001141973.2:c.2537_2538del NP_001135445.1:p.Phe846CysfsTer6
NM_001141974.2:c.2420_2421del NP_001135446.1:p.Phe807CysfsTer6
NM_022089.3:c.2552_2553del NP_071372.1:p.Phe851CysfsTer6
XM_005245809.1:c.2552_2553del XP_005245866.1:p.Phe851CysfsTer6
XM_005245810.1:c.2549_2550del XP_005245867.1:p.Phe850CysfsTer6
XM_005245811.1:c.2537_2538del XP_005245868.1:p.Phe846CysfsTer6
XM_005245812.1:c.2525_2526del XP_005245869.1:p.Phe842CysfsTer6
XM_005245813.1:c.2492_2493del XP_005245870.1:p.Phe831CysfsTer6
XM_005245815.1:c.2435_2436del XP_005245872.1:p.Phe812CysfsTer6
XM_006710512.1:c.2534_2535del XP_006710575.1:p.Phe845CysfsTer6
XM_006710513.1:c.2510_2511del XP_006710576.1:p.Phe837CysfsTer6
XM_011541128.1:c.2537_2538del XP_011539430.1:p.Phe846CysfsTer6
XM_011541129.1:c.2345_2346del XP_011539431.1:p.Phe782CysfsTer6
XM_017000844.1:c.2537_2538del XP_016856333.1:p.Phe846CysfsTer6
XM_017000845.1:c.2534_2535del XP_016856334.1:p.Phe845CysfsTer6
XM_017000846.1:c.2510_2511del XP_016856335.1:p.Phe837CysfsTer6
XM_017000847.1:c.2507_2508del XP_016856336.1:p.Phe836CysfsTer6
XM_017000848.1:c.2435_2436del XP_016856337.1:p.Phe812CysfsTer6
XM_017000849.1:c.2420_2421del XP_016856338.1:p.Phe807CysfsTer6
XM_017000850.1:c.2345_2346del XP_016856339.1:p.Phe782CysfsTer6
NM_022089.4:c.2552_2553del MANE Select NP_071372.1:p.Phe851CysfsTer6
NM_001141973.3:c.2537_2538del NP_001135445.1:p.Phe846CysfsTer6
NM_001141974.3:c.2420_2421del NP_001135446.1:p.Phe807CysfsTer6