Canonical Allele Identifier: CA1156049867

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986516G= , CM000663.2:g.16986516G=	GRCh38
NC_000001.10:g.17313011G= , CM000663.1:g.17313011G=	GRCh37
NC_000001.9:g.17185598G=	NCBI36
NG_009054.1:g.30413C=
NG_029688.1:g.71C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3352C= MANE Select	ENSP00000327214.8:p.Leu1118=
ENST00000326735.12:c.3352C=	ENSP00000327214.8:p.Leu1118=
ENST00000341676.9:c.3104-158C=	ENSP00000341115.5:n.3104-158C=
ENST00000452699.5:c.3337C=	ENSP00000413307.1:p.Leu1113=
ENST00000466561.1:n.1398C=
ENST00000502418.1:c.824-158C=	ENSP00000423065.1:n.824-158C=
NM_001141973.2:c.3337C=	NP_001135445.1:p.Leu1113=
NM_001141974.2:c.3104-158C=	NP_001135446.1:n.3104-158C=
NM_022089.3:c.3352C=	NP_071372.1:p.Leu1118=
XM_005245809.1:c.3236-158C=	XP_005245866.1:n.3236-158C=
XM_005245810.1:c.3233-158C=	XP_005245867.1:n.3233-158C=
XM_005245811.1:c.3221-158C=	XP_005245868.1:n.3221-158C=
XM_005245812.1:c.3209-158C=	XP_005245869.1:n.3209-158C=
XM_005245813.1:c.3176-158C=	XP_005245870.1:n.3176-158C=
XM_005245815.1:c.3119-158C=	XP_005245872.1:n.3119-158C=
XM_006710512.1:c.3218-158C=	XP_006710575.1:n.3218-158C=
XM_006710513.1:c.3194-158C=	XP_006710576.1:n.3194-158C=
XM_011541128.1:c.3221-158C=	XP_011539430.1:n.3221-158C=
XM_011541129.1:c.3029-158C=	XP_011539431.1:n.3029-158C=
XM_017000844.1:c.3337C=	XP_016856333.1:p.Leu1113=
XM_017000845.1:c.3334C=	XP_016856334.1:p.Leu1112=
XM_017000846.1:c.3310C=	XP_016856335.1:p.Leu1104=
XM_017000847.1:c.3307C=	XP_016856336.1:p.Leu1103=
XM_017000848.1:c.3235C=	XP_016856337.1:p.Leu1079=
XM_017000849.1:c.3220C=	XP_016856338.1:p.Leu1074=
XM_017000850.1:c.3145C=	XP_016856339.1:p.Leu1049=
NM_022089.4:c.3352C= MANE Select	NP_071372.1:p.Leu1118=
NM_001141973.3:c.3337C=	NP_001135445.1:p.Leu1113=
NM_001141974.3:c.3104-158C=	NP_001135446.1:n.3104-158C=