Canonical Allele Identifier: CA2573130503
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476489
ClinVar RCV Id: RCV001977976
dbSNP Id: rs1367928615

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16995964dup , CM000663.2:g.16995964dup GRCh38
NC_000001.10:g.17322459dup , CM000663.1:g.17322459dup GRCh37
NC_000001.9:g.17195046dup NCBI36
NG_009054.1:g.20966dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1542+13dup MANE Select ENSP00000327214.8:n.1542+13dup
ENST00000326735.12:c.1542+13dup ENSP00000327214.8:n.1542+13dup
ENST00000341676.9:c.1527+13dup ENSP00000341115.5:n.1527+13dup
ENST00000452699.5:c.1527+13dup ENSP00000413307.1:n.1527+13dup
ENST00000463860.5:n.1163dup
ENST00000502860.1:n.583dup
ENST00000503552.1:c.219+13dup ENSP00000421126.1:n.219+13dup
ENST00000617114.4:c.583dup ENSP00000478781.1:p.Val195GlyfsTer?
NM_001141973.2:c.1527+13dup NP_001135445.1:n.1527+13dup
NM_001141974.2:c.1527+13dup NP_001135446.1:n.1527+13dup
NM_022089.3:c.1542+13dup NP_071372.1:n.1542+13dup
XM_005245809.1:c.1542+13dup XP_005245866.1:n.1542+13dup
XM_005245810.1:c.1539+13dup XP_005245867.1:n.1539+13dup
XM_005245811.1:c.1527+13dup XP_005245868.1:n.1527+13dup
XM_005245812.1:c.1515+13dup XP_005245869.1:n.1515+13dup
XM_005245813.1:c.1542+13dup XP_005245870.1:n.1542+13dup
XM_005245815.1:c.1542+13dup XP_005245872.1:n.1542+13dup
XM_006710512.1:c.1524+13dup XP_006710575.1:n.1524+13dup
XM_006710513.1:c.1500+13dup XP_006710576.1:n.1500+13dup
XM_011541128.1:c.1527+28dup XP_011539430.1:n.1527+28dup
XM_011541129.1:c.1542+13dup XP_011539431.1:n.1542+13dup
XM_017000844.1:c.1527+28dup XP_016856333.1:n.1527+28dup
XM_017000845.1:c.1524+13dup XP_016856334.1:n.1524+13dup
XM_017000846.1:c.1500+13dup XP_016856335.1:n.1500+13dup
XM_017000847.1:c.1497+28dup XP_016856336.1:n.1497+28dup
XM_017000848.1:c.1542+13dup XP_016856337.1:n.1542+13dup
XM_017000849.1:c.1527+13dup XP_016856338.1:n.1527+13dup
XM_017000850.1:c.1542+13dup XP_016856339.1:n.1542+13dup
NM_022089.4:c.1542+13dup MANE Select NP_071372.1:n.1542+13dup
NM_001141973.3:c.1527+13dup NP_001135445.1:n.1527+13dup
NM_001141974.3:c.1527+13dup NP_001135446.1:n.1527+13dup