Canonical Allele Identifier: CA1143374023

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986311G= , CM000663.2:g.16986311G=	GRCh38
NC_000001.10:g.17312806G= , CM000663.1:g.17312806G=	GRCh37
NC_000001.9:g.17185393G=	NCBI36
NG_009054.1:g.30618C=
NG_029688.1:g.276C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3453C= MANE Select	ENSP00000327214.8:p.Pro1151=
ENST00000326735.12:c.3453C=	ENSP00000327214.8:p.Pro1151=
ENST00000341676.9:c.3151C=	ENSP00000341115.5:p.Gln1051=
ENST00000452699.5:c.3438C=	ENSP00000413307.1:p.Pro1146=
ENST00000466561.1:n.1499C=
ENST00000502418.1:c.871C=	ENSP00000423065.1:p.Gln291=
NM_001141973.2:c.3438C=	NP_001135445.1:p.Pro1146=
NM_001141974.2:c.3151C=	NP_001135446.1:p.Gln1051=
NM_022089.3:c.3453C=	NP_071372.1:p.Pro1151=
XM_005245809.1:c.3283C=	XP_005245866.1:p.Gln1095=
XM_005245810.1:c.3280C=	XP_005245867.1:p.Gln1094=
XM_005245811.1:c.3268C=	XP_005245868.1:p.Gln1090=
XM_005245812.1:c.3256C=	XP_005245869.1:p.Gln1086=
XM_005245813.1:c.3223C=	XP_005245870.1:p.Gln1075=
XM_005245815.1:c.3166C=	XP_005245872.1:p.Gln1056=
XM_006710512.1:c.3265C=	XP_006710575.1:p.Gln1089=
XM_006710513.1:c.3241C=	XP_006710576.1:p.Gln1081=
XM_011541128.1:c.3268C=	XP_011539430.1:p.Gln1090=
XM_011541129.1:c.3076C=	XP_011539431.1:p.Gln1026=
XM_017000844.1:c.3438C=	XP_016856333.1:p.Pro1146=
XM_017000845.1:c.3435C=	XP_016856334.1:p.Pro1145=
XM_017000846.1:c.3411C=	XP_016856335.1:p.Pro1137=
XM_017000847.1:c.3408C=	XP_016856336.1:p.Pro1136=
XM_017000848.1:c.3336C=	XP_016856337.1:p.Pro1112=
XM_017000849.1:c.3321C=	XP_016856338.1:p.Pro1107=
XM_017000850.1:c.3246C=	XP_016856339.1:p.Pro1082=
NM_022089.4:c.3453C= MANE Select	NP_071372.1:p.Pro1151=
NM_001141973.3:c.3438C=	NP_001135445.1:p.Pro1146=
NM_001141974.3:c.3151C=	NP_001135446.1:p.Gln1051=