Canonical Allele Identifier: CA1146124920

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986011G= , CM000663.2:g.16986011G=	GRCh38
NC_000001.10:g.17312506G= , CM000663.1:g.17312506G=	GRCh37
NC_000001.9:g.17185093G=	NCBI36
NG_009054.1:g.30918C=
NG_029688.1:g.576C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*210C= MANE Select	ENSP00000327214.8:n.*210C=
ENST00000326735.12:c.*210C=	ENSP00000327214.8:n.*210C=
ENST00000341676.9:c.3451C=	ENSP00000341115.5:p.Leu1151=
ENST00000452699.5:c.*210C=	ENSP00000413307.1:n.*210C=
ENST00000466561.1:n.1799C=
ENST00000502418.1:c.1171C=	ENSP00000423065.1:p.Leu391=
NM_001141973.2:c.*210C=	NP_001135445.1:n.*210C=
NM_001141974.2:c.3451C=	NP_001135446.1:p.Leu1151=
NM_022089.3:c.*210C=	NP_071372.1:n.*210C=
XM_005245809.1:c.3583C=	XP_005245866.1:p.Leu1195=
XM_005245810.1:c.3580C=	XP_005245867.1:p.Leu1194=
XM_005245811.1:c.3568C=	XP_005245868.1:p.Leu1190=
XM_005245812.1:c.3556C=	XP_005245869.1:p.Leu1186=
XM_005245813.1:c.3523C=	XP_005245870.1:p.Leu1175=
XM_005245815.1:c.3466C=	XP_005245872.1:p.Leu1156=
XM_006710512.1:c.3565C=	XP_006710575.1:p.Leu1189=
XM_006710513.1:c.3541C=	XP_006710576.1:p.Leu1181=
XM_011541128.1:c.3568C=	XP_011539430.1:p.Leu1190=
XM_011541129.1:c.3376C=	XP_011539431.1:p.Leu1126=
XM_017000844.1:c.*210C=	XP_016856333.1:n.*210C=
XM_017000845.1:c.*210C=	XP_016856334.1:n.*210C=
XM_017000846.1:c.*210C=	XP_016856335.1:n.*210C=
XM_017000847.1:c.*210C=	XP_016856336.1:n.*210C=
XM_017000848.1:c.*210C=	XP_016856337.1:n.*210C=
XM_017000849.1:c.*210C=	XP_016856338.1:n.*210C=
XM_017000850.1:c.*210C=	XP_016856339.1:n.*210C=
NM_022089.4:c.*210C= MANE Select	NP_071372.1:n.*210C=
NM_001141973.3:c.*210C=	NP_001135445.1:n.*210C=
NM_001141974.3:c.3451C=	NP_001135446.1:p.Leu1151=