Canonical Allele Identifier: CA251716
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1221
dbSNP Id: rs121918227
gnomAD v4: 1-16996008-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996008C>G , CM000663.2:g.16996008C>G GRCh38
NC_000001.10:g.17322503C>G , CM000663.1:g.17322503C>G GRCh37
NC_000001.9:g.17195090C>G NCBI36
NG_009054.1:g.20921G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.1510G>C MANE Select ENSP00000327214.8:p.Gly504Arg
ENST00000326735.12:c.1510G>C ENSP00000327214.8:p.Gly504Arg
ENST00000341676.9:c.1495G>C ENSP00000341115.5:p.Gly499Arg
ENST00000452699.5:c.1495G>C ENSP00000413307.1:p.Gly499Arg
ENST00000463860.5:n.1118G>C
ENST00000502860.1:n.538G>C
ENST00000503552.1:c.187G>C ENSP00000421126.1:p.Gly63Arg
ENST00000617114.4:c.538G>C ENSP00000478781.1:p.Gly180Arg
NM_001141973.2:c.1495G>C NP_001135445.1:p.Gly499Arg
NM_001141974.2:c.1495G>C NP_001135446.1:p.Gly499Arg
NM_022089.3:c.1510G>C NP_071372.1:p.Gly504Arg
XM_005245809.1:c.1510G>C XP_005245866.1:p.Gly504Arg
XM_005245810.1:c.1507G>C XP_005245867.1:p.Gly503Arg
XM_005245811.1:c.1495G>C XP_005245868.1:p.Gly499Arg
XM_005245812.1:c.1483G>C XP_005245869.1:p.Gly495Arg
XM_005245813.1:c.1510G>C XP_005245870.1:p.Gly504Arg
XM_005245815.1:c.1510G>C XP_005245872.1:p.Gly504Arg
XM_006710512.1:c.1492G>C XP_006710575.1:p.Gly498Arg
XM_006710513.1:c.1468G>C XP_006710576.1:p.Gly490Arg
XM_011541128.1:c.1510G>C XP_011539430.1:p.Gly504Arg
XM_011541129.1:c.1510G>C XP_011539431.1:p.Gly504Arg
XM_017000844.1:c.1510G>C XP_016856333.1:p.Gly504Arg
XM_017000845.1:c.1492G>C XP_016856334.1:p.Gly498Arg
XM_017000846.1:c.1468G>C XP_016856335.1:p.Gly490Arg
XM_017000847.1:c.1480G>C XP_016856336.1:p.Gly494Arg
XM_017000848.1:c.1510G>C XP_016856337.1:p.Gly504Arg
XM_017000849.1:c.1495G>C XP_016856338.1:p.Gly499Arg
XM_017000850.1:c.1510G>C XP_016856339.1:p.Gly504Arg
NM_022089.4:c.1510G>C MANE Select NP_071372.1:p.Gly504Arg
NM_001141973.3:c.1495G>C NP_001135445.1:p.Gly499Arg
NM_001141974.3:c.1495G>C NP_001135446.1:p.Gly499Arg