Canonical Allele Identifier: CA636483

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986325G>A , CM000663.2:g.16986325G>A	GRCh38
NC_000001.10:g.17312820G>A , CM000663.1:g.17312820G>A	GRCh37
NC_000001.9:g.17185407G>A	NCBI36
NG_009054.1:g.30604C>T
NG_029688.1:g.262C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.3439C>T MANE Select	NP_071372.1:p.Arg1147Cys
ENST00000326735.13:c.3439C>T MANE Select	ENSP00000327214.8:p.Arg1147Cys
NM_001141973.2:c.3424C>T	NP_001135445.1:p.Arg1142Cys
NM_001141973.3:c.3424C>T	NP_001135445.1:p.Arg1142Cys
NM_001141974.2:c.3137C>T	NP_001135446.1:p.Ala1046Val
NM_001141974.3:c.3137C>T	NP_001135446.1:p.Ala1046Val
NM_022089.3:c.3439C>T	NP_071372.1:p.Arg1147Cys
ENST00000326735.12:c.3439C>T	ENSP00000327214.8:p.Arg1147Cys
ENST00000341676.9:c.3137C>T	ENSP00000341115.5:p.Ala1046Val
ENST00000452699.5:c.3424C>T	ENSP00000413307.1:p.Arg1142Cys
ENST00000466561.1:n.1485C>T
ENST00000502418.1:c.857C>T	ENSP00000423065.1:p.Ala286Val
XM_005245809.1:c.3269C>T	XP_005245866.1:p.Ala1090Val
XM_005245810.1:c.3266C>T	XP_005245867.1:p.Ala1089Val
XM_005245811.1:c.3254C>T	XP_005245868.1:p.Ala1085Val
XM_005245812.1:c.3242C>T	XP_005245869.1:p.Ala1081Val
XM_005245813.1:c.3209C>T	XP_005245870.1:p.Ala1070Val
XM_005245815.1:c.3152C>T	XP_005245872.1:p.Ala1051Val
XM_006710512.1:c.3251C>T	XP_006710575.1:p.Ala1084Val
XM_006710513.1:c.3227C>T	XP_006710576.1:p.Ala1076Val
XM_011541128.1:c.3254C>T	XP_011539430.1:p.Ala1085Val
XM_011541129.1:c.3062C>T	XP_011539431.1:p.Ala1021Val
XM_017000844.1:c.3424C>T	XP_016856333.1:p.Arg1142Cys
XM_017000845.1:c.3421C>T	XP_016856334.1:p.Arg1141Cys
XM_017000846.1:c.3397C>T	XP_016856335.1:p.Arg1133Cys
XM_017000847.1:c.3394C>T	XP_016856336.1:p.Arg1132Cys
XM_017000848.1:c.3322C>T	XP_016856337.1:p.Arg1108Cys
XM_017000849.1:c.3307C>T	XP_016856338.1:p.Arg1103Cys
XM_017000850.1:c.3232C>T	XP_016856339.1:p.Arg1078Cys