Canonical Allele Identifier: CA338232661
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986465C>A , CM000663.2:g.16986465C>A GRCh38
NC_000001.10:g.17312960C>A , CM000663.1:g.17312960C>A GRCh37
NC_000001.9:g.17185547C>A NCBI36
NG_009054.1:g.30464G>T
NG_029688.1:g.122G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3403G>T MANE Select ENSP00000327214.8:p.Glu1135Ter
ENST00000326735.12:c.3403G>T ENSP00000327214.8:p.Glu1135Ter
ENST00000341676.9:c.3104-107G>T ENSP00000341115.5:n.3104-107G>T
ENST00000452699.5:c.3388G>T ENSP00000413307.1:p.Glu1130Ter
ENST00000466561.1:n.1449G>T
ENST00000502418.1:c.824-107G>T ENSP00000423065.1:n.824-107G>T
NM_001141973.2:c.3388G>T NP_001135445.1:p.Glu1130Ter
NM_001141974.2:c.3104-107G>T NP_001135446.1:n.3104-107G>T
NM_022089.3:c.3403G>T NP_071372.1:p.Glu1135Ter
XM_005245809.1:c.3236-107G>T XP_005245866.1:n.3236-107G>T
XM_005245810.1:c.3233-107G>T XP_005245867.1:n.3233-107G>T
XM_005245811.1:c.3221-107G>T XP_005245868.1:n.3221-107G>T
XM_005245812.1:c.3209-107G>T XP_005245869.1:n.3209-107G>T
XM_005245813.1:c.3176-107G>T XP_005245870.1:n.3176-107G>T
XM_005245815.1:c.3119-107G>T XP_005245872.1:n.3119-107G>T
XM_006710512.1:c.3218-107G>T XP_006710575.1:n.3218-107G>T
XM_006710513.1:c.3194-107G>T XP_006710576.1:n.3194-107G>T
XM_011541128.1:c.3221-107G>T XP_011539430.1:n.3221-107G>T
XM_011541129.1:c.3029-107G>T XP_011539431.1:n.3029-107G>T
XM_017000844.1:c.3388G>T XP_016856333.1:p.Glu1130Ter
XM_017000845.1:c.3385G>T XP_016856334.1:p.Glu1129Ter
XM_017000846.1:c.3361G>T XP_016856335.1:p.Glu1121Ter
XM_017000847.1:c.3358G>T XP_016856336.1:p.Glu1120Ter
XM_017000848.1:c.3286G>T XP_016856337.1:p.Glu1096Ter
XM_017000849.1:c.3271G>T XP_016856338.1:p.Glu1091Ter
XM_017000850.1:c.3196G>T XP_016856339.1:p.Glu1066Ter
NM_022089.4:c.3403G>T MANE Select NP_071372.1:p.Glu1135Ter
NM_001141973.3:c.3388G>T NP_001135445.1:p.Glu1130Ter
NM_001141974.3:c.3104-107G>T NP_001135446.1:n.3104-107G>T