Canonical Allele Identifier: CA636486

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986335G>A , CM000663.2:g.16986335G>A	GRCh38
NC_000001.10:g.17312830G>A , CM000663.1:g.17312830G>A	GRCh37
NC_000001.9:g.17185417G>A	NCBI36
NG_009054.1:g.30594C>T
NG_029688.1:g.252C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.3429C>T MANE Select	NP_071372.1:p.Pro1143=
ENST00000326735.13:c.3429C>T MANE Select	ENSP00000327214.8:p.Pro1143=
NM_001141973.2:c.3414C>T	NP_001135445.1:p.Pro1138=
NM_001141973.3:c.3414C>T	NP_001135445.1:p.Pro1138=
NM_001141974.2:c.3127C>T	NP_001135446.1:p.Arg1043Cys
NM_001141974.3:c.3127C>T	NP_001135446.1:p.Arg1043Cys
NM_022089.3:c.3429C>T	NP_071372.1:p.Pro1143=
ENST00000326735.12:c.3429C>T	ENSP00000327214.8:p.Pro1143=
ENST00000341676.9:c.3127C>T	ENSP00000341115.5:p.Arg1043Cys
ENST00000452699.5:c.3414C>T	ENSP00000413307.1:p.Pro1138=
ENST00000466561.1:n.1475C>T
ENST00000502418.1:c.847C>T	ENSP00000423065.1:p.Arg283Cys
XM_005245809.1:c.3259C>T	XP_005245866.1:p.Arg1087Cys
XM_005245810.1:c.3256C>T	XP_005245867.1:p.Arg1086Cys
XM_005245811.1:c.3244C>T	XP_005245868.1:p.Arg1082Cys
XM_005245812.1:c.3232C>T	XP_005245869.1:p.Arg1078Cys
XM_005245813.1:c.3199C>T	XP_005245870.1:p.Arg1067Cys
XM_005245815.1:c.3142C>T	XP_005245872.1:p.Arg1048Cys
XM_006710512.1:c.3241C>T	XP_006710575.1:p.Arg1081Cys
XM_006710513.1:c.3217C>T	XP_006710576.1:p.Arg1073Cys
XM_011541128.1:c.3244C>T	XP_011539430.1:p.Arg1082Cys
XM_011541129.1:c.3052C>T	XP_011539431.1:p.Arg1018Cys
XM_017000844.1:c.3414C>T	XP_016856333.1:p.Pro1138=
XM_017000845.1:c.3411C>T	XP_016856334.1:p.Pro1137=
XM_017000846.1:c.3387C>T	XP_016856335.1:p.Pro1129=
XM_017000847.1:c.3384C>T	XP_016856336.1:p.Pro1128=
XM_017000848.1:c.3312C>T	XP_016856337.1:p.Pro1104=
XM_017000849.1:c.3297C>T	XP_016856338.1:p.Pro1099=
XM_017000850.1:c.3222C>T	XP_016856339.1:p.Pro1074=