Canonical Allele Identifier: CA1156050462
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986867T= , CM000663.2:g.16986867T= GRCh38
NC_000001.10:g.17313362T= , CM000663.1:g.17313362T= GRCh37
NC_000001.9:g.17185949T= NCBI36
NG_009054.1:g.30062A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3173A= MANE Select ENSP00000327214.8:p.Tyr1058=
ENST00000326735.12:c.3173A= ENSP00000327214.8:p.Tyr1058=
ENST00000341676.9:c.3041A= ENSP00000341115.5:p.Tyr1014=
ENST00000452699.5:c.3158A= ENSP00000413307.1:p.Tyr1053=
ENST00000466561.1:n.1047A=
ENST00000502418.1:c.761A= ENSP00000423065.1:p.Tyr254=
NM_001141973.2:c.3158A= NP_001135445.1:p.Tyr1053=
NM_001141974.2:c.3041A= NP_001135446.1:p.Tyr1014=
NM_022089.3:c.3173A= NP_071372.1:p.Tyr1058=
XM_005245809.1:c.3173A= XP_005245866.1:p.Tyr1058=
XM_005245810.1:c.3170A= XP_005245867.1:p.Tyr1057=
XM_005245811.1:c.3158A= XP_005245868.1:p.Tyr1053=
XM_005245812.1:c.3146A= XP_005245869.1:p.Tyr1049=
XM_005245813.1:c.3113A= XP_005245870.1:p.Tyr1038=
XM_005245815.1:c.3056A= XP_005245872.1:p.Tyr1019=
XM_006710512.1:c.3155A= XP_006710575.1:p.Tyr1052=
XM_006710513.1:c.3131A= XP_006710576.1:p.Tyr1044=
XM_011541128.1:c.3158A= XP_011539430.1:p.Tyr1053=
XM_011541129.1:c.2966A= XP_011539431.1:p.Tyr989=
XM_017000844.1:c.3158A= XP_016856333.1:p.Tyr1053=
XM_017000845.1:c.3155A= XP_016856334.1:p.Tyr1052=
XM_017000846.1:c.3131A= XP_016856335.1:p.Tyr1044=
XM_017000847.1:c.3128A= XP_016856336.1:p.Tyr1043=
XM_017000848.1:c.3056A= XP_016856337.1:p.Tyr1019=
XM_017000849.1:c.3041A= XP_016856338.1:p.Tyr1014=
XM_017000850.1:c.2966A= XP_016856339.1:p.Tyr989=
NM_022089.4:c.3173A= MANE Select NP_071372.1:p.Tyr1058=
NM_001141973.3:c.3158A= NP_001135445.1:p.Tyr1053=
NM_001141974.3:c.3041A= NP_001135446.1:p.Tyr1014=