Canonical Allele Identifier: CA18625694
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1728485
ClinVar RCV Id: RCV002322688
dbSNP Id: rs137853967

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986864A>C , CM000663.2:g.16986864A>C GRCh38
NC_000001.10:g.17313359A>C , CM000663.1:g.17313359A>C GRCh37
NC_000001.9:g.17185946A>C NCBI36
NG_009054.1:g.30065T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3176T>G MANE Select ENSP00000327214.8:p.Leu1059Arg
ENST00000326735.12:c.3176T>G ENSP00000327214.8:p.Leu1059Arg
ENST00000341676.9:c.3044T>G ENSP00000341115.5:p.Leu1015Arg
ENST00000452699.5:c.3161T>G ENSP00000413307.1:p.Leu1054Arg
ENST00000466561.1:n.1050T>G
ENST00000502418.1:c.764T>G ENSP00000423065.1:p.Leu255Arg
NM_001141973.2:c.3161T>G NP_001135445.1:p.Leu1054Arg
NM_001141974.2:c.3044T>G NP_001135446.1:p.Leu1015Arg
NM_022089.3:c.3176T>G NP_071372.1:p.Leu1059Arg
XM_005245809.1:c.3176T>G XP_005245866.1:p.Leu1059Arg
XM_005245810.1:c.3173T>G XP_005245867.1:p.Leu1058Arg
XM_005245811.1:c.3161T>G XP_005245868.1:p.Leu1054Arg
XM_005245812.1:c.3149T>G XP_005245869.1:p.Leu1050Arg
XM_005245813.1:c.3116T>G XP_005245870.1:p.Leu1039Arg
XM_005245815.1:c.3059T>G XP_005245872.1:p.Leu1020Arg
XM_006710512.1:c.3158T>G XP_006710575.1:p.Leu1053Arg
XM_006710513.1:c.3134T>G XP_006710576.1:p.Leu1045Arg
XM_011541128.1:c.3161T>G XP_011539430.1:p.Leu1054Arg
XM_011541129.1:c.2969T>G XP_011539431.1:p.Leu990Arg
XM_017000844.1:c.3161T>G XP_016856333.1:p.Leu1054Arg
XM_017000845.1:c.3158T>G XP_016856334.1:p.Leu1053Arg
XM_017000846.1:c.3134T>G XP_016856335.1:p.Leu1045Arg
XM_017000847.1:c.3131T>G XP_016856336.1:p.Leu1044Arg
XM_017000848.1:c.3059T>G XP_016856337.1:p.Leu1020Arg
XM_017000849.1:c.3044T>G XP_016856338.1:p.Leu1015Arg
XM_017000850.1:c.2969T>G XP_016856339.1:p.Leu990Arg
NM_022089.4:c.3176T>G MANE Select NP_071372.1:p.Leu1059Arg
NM_001141973.3:c.3161T>G NP_001135445.1:p.Leu1054Arg
NM_001141974.3:c.3044T>G NP_001135446.1:p.Leu1015Arg