Canonical Allele Identifier: CA636481

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986321C>T , CM000663.2:g.16986321C>T	GRCh38
NC_000001.10:g.17312816C>T , CM000663.1:g.17312816C>T	GRCh37
NC_000001.9:g.17185403C>T	NCBI36
NG_009054.1:g.30608G>A
NG_029688.1:g.266G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.3443G>A MANE Select	NP_071372.1:p.Arg1148His
ENST00000326735.13:c.3443G>A MANE Select	ENSP00000327214.8:p.Arg1148His
NM_001141973.2:c.3428G>A	NP_001135445.1:p.Arg1143His
NM_001141973.3:c.3428G>A	NP_001135445.1:p.Arg1143His
NM_001141974.2:c.3141G>A	NP_001135446.1:p.Pro1047=
NM_001141974.3:c.3141G>A	NP_001135446.1:p.Pro1047=
NM_022089.3:c.3443G>A	NP_071372.1:p.Arg1148His
ENST00000326735.12:c.3443G>A	ENSP00000327214.8:p.Arg1148His
ENST00000341676.9:c.3141G>A	ENSP00000341115.5:p.Pro1047=
ENST00000452699.5:c.3428G>A	ENSP00000413307.1:p.Arg1143His
ENST00000466561.1:n.1489G>A
ENST00000502418.1:c.861G>A	ENSP00000423065.1:p.Pro287=
XM_005245809.1:c.3273G>A	XP_005245866.1:p.Pro1091=
XM_005245810.1:c.3270G>A	XP_005245867.1:p.Pro1090=
XM_005245811.1:c.3258G>A	XP_005245868.1:p.Pro1086=
XM_005245812.1:c.3246G>A	XP_005245869.1:p.Pro1082=
XM_005245813.1:c.3213G>A	XP_005245870.1:p.Pro1071=
XM_005245815.1:c.3156G>A	XP_005245872.1:p.Pro1052=
XM_006710512.1:c.3255G>A	XP_006710575.1:p.Pro1085=
XM_006710513.1:c.3231G>A	XP_006710576.1:p.Pro1077=
XM_011541128.1:c.3258G>A	XP_011539430.1:p.Pro1086=
XM_011541129.1:c.3066G>A	XP_011539431.1:p.Pro1022=
XM_017000844.1:c.3428G>A	XP_016856333.1:p.Arg1143His
XM_017000845.1:c.3425G>A	XP_016856334.1:p.Arg1142His
XM_017000846.1:c.3401G>A	XP_016856335.1:p.Arg1134His
XM_017000847.1:c.3398G>A	XP_016856336.1:p.Arg1133His
XM_017000848.1:c.3326G>A	XP_016856337.1:p.Arg1109His
XM_017000849.1:c.3311G>A	XP_016856338.1:p.Arg1104His
XM_017000850.1:c.3236G>A	XP_016856339.1:p.Arg1079His