Canonical Allele Identifier: CA1156050490
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs2076750943

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986884dup , CM000663.2:g.16986884dup GRCh38
NC_000001.10:g.17313379dup , CM000663.1:g.17313379dup GRCh37
NC_000001.9:g.17185966dup NCBI36
NG_009054.1:g.30045dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3156dup MANE Select ENSP00000327214.8:p.Leu1053SerfsTer?
ENST00000326735.12:c.3156dup ENSP00000327214.8:p.Leu1053SerfsTer?
ENST00000341676.9:c.3024dup ENSP00000341115.5:p.Leu1009SerfsTer27
ENST00000452699.5:c.3141dup ENSP00000413307.1:p.Leu1048SerfsTer?
ENST00000466561.1:n.1030dup
ENST00000502418.1:c.744dup ENSP00000423065.1:p.Leu249SerfsTer27
NM_001141973.2:c.3141dup NP_001135445.1:p.Leu1048SerfsTer?
NM_001141974.2:c.3024dup NP_001135446.1:p.Leu1009SerfsTer27
NM_022089.3:c.3156dup NP_071372.1:p.Leu1053SerfsTer?
XM_005245809.1:c.3156dup XP_005245866.1:p.Leu1053SerfsTer27
XM_005245810.1:c.3153dup XP_005245867.1:p.Leu1052SerfsTer27
XM_005245811.1:c.3141dup XP_005245868.1:p.Leu1048SerfsTer27
XM_005245812.1:c.3129dup XP_005245869.1:p.Leu1044SerfsTer27
XM_005245813.1:c.3096dup XP_005245870.1:p.Leu1033SerfsTer27
XM_005245815.1:c.3039dup XP_005245872.1:p.Leu1014SerfsTer27
XM_006710512.1:c.3138dup XP_006710575.1:p.Leu1047SerfsTer27
XM_006710513.1:c.3114dup XP_006710576.1:p.Leu1039SerfsTer27
XM_011541128.1:c.3141dup XP_011539430.1:p.Leu1048SerfsTer27
XM_011541129.1:c.2949dup XP_011539431.1:p.Leu984SerfsTer27
XM_017000844.1:c.3141dup XP_016856333.1:p.Leu1048SerfsTer?
XM_017000845.1:c.3138dup XP_016856334.1:p.Leu1047SerfsTer?
XM_017000846.1:c.3114dup XP_016856335.1:p.Leu1039SerfsTer?
XM_017000847.1:c.3111dup XP_016856336.1:p.Leu1038SerfsTer?
XM_017000848.1:c.3039dup XP_016856337.1:p.Leu1014SerfsTer?
XM_017000849.1:c.3024dup XP_016856338.1:p.Leu1009SerfsTer?
XM_017000850.1:c.2949dup XP_016856339.1:p.Leu984SerfsTer?
NM_022089.4:c.3156dup MANE Select NP_071372.1:p.Leu1053SerfsTer?
NM_001141973.3:c.3141dup NP_001135445.1:p.Leu1048SerfsTer?
NM_001141974.3:c.3024dup NP_001135446.1:p.Leu1009SerfsTer27