Canonical Allele Identifier: CA1156049610
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986342C= , CM000663.2:g.16986342C= GRCh38
NC_000001.10:g.17312837C= , CM000663.1:g.17312837C= GRCh37
NC_000001.9:g.17185424C= NCBI36
NG_009054.1:g.30587G=
NG_029688.1:g.245G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3422G= MANE Select ENSP00000327214.8:p.Cys1141=
ENST00000326735.12:c.3422G= ENSP00000327214.8:p.Cys1141=
ENST00000341676.9:c.3120G= ENSP00000341115.5:p.Val1040=
ENST00000452699.5:c.3407G= ENSP00000413307.1:p.Cys1136=
ENST00000466561.1:n.1468G=
ENST00000502418.1:c.840G= ENSP00000423065.1:p.Val280=
NM_001141973.2:c.3407G= NP_001135445.1:p.Cys1136=
NM_001141974.2:c.3120G= NP_001135446.1:p.Val1040=
NM_022089.3:c.3422G= NP_071372.1:p.Cys1141=
XM_005245809.1:c.3252G= XP_005245866.1:p.Val1084=
XM_005245810.1:c.3249G= XP_005245867.1:p.Val1083=
XM_005245811.1:c.3237G= XP_005245868.1:p.Val1079=
XM_005245812.1:c.3225G= XP_005245869.1:p.Val1075=
XM_005245813.1:c.3192G= XP_005245870.1:p.Val1064=
XM_005245815.1:c.3135G= XP_005245872.1:p.Val1045=
XM_006710512.1:c.3234G= XP_006710575.1:p.Val1078=
XM_006710513.1:c.3210G= XP_006710576.1:p.Val1070=
XM_011541128.1:c.3237G= XP_011539430.1:p.Val1079=
XM_011541129.1:c.3045G= XP_011539431.1:p.Val1015=
XM_017000844.1:c.3407G= XP_016856333.1:p.Cys1136=
XM_017000845.1:c.3404G= XP_016856334.1:p.Cys1135=
XM_017000846.1:c.3380G= XP_016856335.1:p.Cys1127=
XM_017000847.1:c.3377G= XP_016856336.1:p.Cys1126=
XM_017000848.1:c.3305G= XP_016856337.1:p.Cys1102=
XM_017000849.1:c.3290G= XP_016856338.1:p.Cys1097=
XM_017000850.1:c.3215G= XP_016856339.1:p.Cys1072=
NM_022089.4:c.3422G= MANE Select NP_071372.1:p.Cys1141=
NM_001141973.3:c.3407G= NP_001135445.1:p.Cys1136=
NM_001141974.3:c.3120G= NP_001135446.1:p.Val1040=