Canonical Allele Identifier: CA1148886465

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996459G= , CM000663.2:g.16996459G=	GRCh38
NC_000001.10:g.17322954G= , CM000663.1:g.17322954G=	GRCh37
NC_000001.9:g.17195541G=	NCBI36
NG_009054.1:g.20470C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1233C= MANE Select	ENSP00000327214.8:p.Ile411=
ENST00000326735.12:c.1233C=	ENSP00000327214.8:p.Ile411=
ENST00000341676.9:c.1218C=	ENSP00000341115.5:p.Ile406=
ENST00000452699.5:c.1218C=	ENSP00000413307.1:p.Ile406=
ENST00000463860.5:n.841C=
ENST00000502860.1:n.335-159C=
ENST00000506174.5:c.375C=	ENSP00000424393.1:p.Ile125=
ENST00000509392.1:n.236C=
ENST00000617114.4:c.335-159C=	ENSP00000478781.1:n.335-159C=
NM_001141973.2:c.1218C=	NP_001135445.1:p.Ile406=
NM_001141974.2:c.1218C=	NP_001135446.1:p.Ile406=
NM_022089.3:c.1233C=	NP_071372.1:p.Ile411=
XM_005245809.1:c.1233C=	XP_005245866.1:p.Ile411=
XM_005245810.1:c.1230C=	XP_005245867.1:p.Ile410=
XM_005245811.1:c.1218C=	XP_005245868.1:p.Ile406=
XM_005245812.1:c.1206C=	XP_005245869.1:p.Ile402=
XM_005245813.1:c.1233C=	XP_005245870.1:p.Ile411=
XM_005245815.1:c.1233C=	XP_005245872.1:p.Ile411=
XM_006710512.1:c.1215C=	XP_006710575.1:p.Ile405=
XM_006710513.1:c.1191C=	XP_006710576.1:p.Ile397=
XM_011541128.1:c.1233C=	XP_011539430.1:p.Ile411=
XM_011541129.1:c.1233C=	XP_011539431.1:p.Ile411=
XM_017000844.1:c.1233C=	XP_016856333.1:p.Ile411=
XM_017000845.1:c.1215C=	XP_016856334.1:p.Ile405=
XM_017000846.1:c.1191C=	XP_016856335.1:p.Ile397=
XM_017000847.1:c.1203C=	XP_016856336.1:p.Ile401=
XM_017000848.1:c.1233C=	XP_016856337.1:p.Ile411=
XM_017000849.1:c.1218C=	XP_016856338.1:p.Ile406=
XM_017000850.1:c.1233C=	XP_016856339.1:p.Ile411=
NM_022089.4:c.1233C= MANE Select	NP_071372.1:p.Ile411=
NM_001141973.3:c.1218C=	NP_001135445.1:p.Ile406=
NM_001141974.3:c.1218C=	NP_001135446.1:p.Ile406=