Canonical Allele Identifier: CA636474

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986292G>A , CM000663.2:g.16986292G>A	GRCh38
NC_000001.10:g.17312787G>A , CM000663.1:g.17312787G>A	GRCh37
NC_000001.9:g.17185374G>A	NCBI36
NG_009054.1:g.30637C>T
NG_029688.1:g.295C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.3472C>T MANE Select	NP_071372.1:p.Arg1158Cys
ENST00000326735.13:c.3472C>T MANE Select	ENSP00000327214.8:p.Arg1158Cys
NM_001141973.2:c.3457C>T	NP_001135445.1:p.Arg1153Cys
NM_001141973.3:c.3457C>T	NP_001135445.1:p.Arg1153Cys
NM_001141974.2:c.3170C>T	NP_001135446.1:p.Ala1057Val
NM_001141974.3:c.3170C>T	NP_001135446.1:p.Ala1057Val
NM_022089.3:c.3472C>T	NP_071372.1:p.Arg1158Cys
ENST00000326735.12:c.3472C>T	ENSP00000327214.8:p.Arg1158Cys
ENST00000341676.9:c.3170C>T	ENSP00000341115.5:p.Ala1057Val
ENST00000452699.5:c.3457C>T	ENSP00000413307.1:p.Arg1153Cys
ENST00000466561.1:n.1518C>T
ENST00000502418.1:c.890C>T	ENSP00000423065.1:p.Ala297Val
XM_005245809.1:c.3302C>T	XP_005245866.1:p.Ala1101Val
XM_005245810.1:c.3299C>T	XP_005245867.1:p.Ala1100Val
XM_005245811.1:c.3287C>T	XP_005245868.1:p.Ala1096Val
XM_005245812.1:c.3275C>T	XP_005245869.1:p.Ala1092Val
XM_005245813.1:c.3242C>T	XP_005245870.1:p.Ala1081Val
XM_005245815.1:c.3185C>T	XP_005245872.1:p.Ala1062Val
XM_006710512.1:c.3284C>T	XP_006710575.1:p.Ala1095Val
XM_006710513.1:c.3260C>T	XP_006710576.1:p.Ala1087Val
XM_011541128.1:c.3287C>T	XP_011539430.1:p.Ala1096Val
XM_011541129.1:c.3095C>T	XP_011539431.1:p.Ala1032Val
XM_017000844.1:c.3457C>T	XP_016856333.1:p.Arg1153Cys
XM_017000845.1:c.3454C>T	XP_016856334.1:p.Arg1152Cys
XM_017000846.1:c.3430C>T	XP_016856335.1:p.Arg1144Cys
XM_017000847.1:c.3427C>T	XP_016856336.1:p.Arg1143Cys
XM_017000848.1:c.3355C>T	XP_016856337.1:p.Arg1119Cys
XM_017000849.1:c.3340C>T	XP_016856338.1:p.Arg1114Cys
XM_017000850.1:c.3265C>T	XP_016856339.1:p.Arg1089Cys