Canonical Allele Identifier: CA338254389
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs2077125908

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996415A>G , CM000663.2:g.16996415A>G GRCh38
NC_000001.10:g.17322910A>G , CM000663.1:g.17322910A>G GRCh37
NC_000001.9:g.17195497A>G NCBI36
NG_009054.1:g.20514T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1277T>C MANE Select ENSP00000327214.8:p.Met426Thr
ENST00000326735.12:c.1277T>C ENSP00000327214.8:p.Met426Thr
ENST00000341676.9:c.1262T>C ENSP00000341115.5:p.Met421Thr
ENST00000452699.5:c.1262T>C ENSP00000413307.1:p.Met421Thr
ENST00000463860.5:n.885T>C
ENST00000502860.1:n.335-115T>C
ENST00000506174.5:c.419T>C ENSP00000424393.1:p.Met140Thr
ENST00000509392.1:n.280T>C
ENST00000617114.4:c.335-115T>C ENSP00000478781.1:n.335-115T>C
NM_001141973.2:c.1262T>C NP_001135445.1:p.Met421Thr
NM_001141974.2:c.1262T>C NP_001135446.1:p.Met421Thr
NM_022089.3:c.1277T>C NP_071372.1:p.Met426Thr
XM_005245809.1:c.1277T>C XP_005245866.1:p.Met426Thr
XM_005245810.1:c.1274T>C XP_005245867.1:p.Met425Thr
XM_005245811.1:c.1262T>C XP_005245868.1:p.Met421Thr
XM_005245812.1:c.1250T>C XP_005245869.1:p.Met417Thr
XM_005245813.1:c.1277T>C XP_005245870.1:p.Met426Thr
XM_005245815.1:c.1277T>C XP_005245872.1:p.Met426Thr
XM_006710512.1:c.1259T>C XP_006710575.1:p.Met420Thr
XM_006710513.1:c.1235T>C XP_006710576.1:p.Met412Thr
XM_011541128.1:c.1277T>C XP_011539430.1:p.Met426Thr
XM_011541129.1:c.1277T>C XP_011539431.1:p.Met426Thr
XM_017000844.1:c.1277T>C XP_016856333.1:p.Met426Thr
XM_017000845.1:c.1259T>C XP_016856334.1:p.Met420Thr
XM_017000846.1:c.1235T>C XP_016856335.1:p.Met412Thr
XM_017000847.1:c.1247T>C XP_016856336.1:p.Met416Thr
XM_017000848.1:c.1277T>C XP_016856337.1:p.Met426Thr
XM_017000849.1:c.1262T>C XP_016856338.1:p.Met421Thr
XM_017000850.1:c.1277T>C XP_016856339.1:p.Met426Thr
NM_022089.4:c.1277T>C MANE Select NP_071372.1:p.Met426Thr
NM_001141973.3:c.1262T>C NP_001135445.1:p.Met421Thr
NM_001141974.3:c.1262T>C NP_001135446.1:p.Met421Thr