Canonical Allele Identifier: CA636572

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986818C>T , CM000663.2:g.16986818C>T	GRCh38
NC_000001.10:g.17313313C>T , CM000663.1:g.17313313C>T	GRCh37
NC_000001.9:g.17185900C>T	NCBI36
NG_009054.1:g.30111G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.3222G>A MANE Select	NP_071372.1:p.Pro1074=
ENST00000326735.13:c.3222G>A MANE Select	ENSP00000327214.8:p.Pro1074=
NM_001141973.2:c.3207G>A	NP_001135445.1:p.Pro1069=
NM_001141973.3:c.3207G>A	NP_001135445.1:p.Pro1069=
NM_001141974.2:c.3090G>A	NP_001135446.1:p.Pro1030=
NM_001141974.3:c.3090G>A	NP_001135446.1:p.Pro1030=
NM_022089.3:c.3222G>A	NP_071372.1:p.Pro1074=
ENST00000326735.12:c.3222G>A	ENSP00000327214.8:p.Pro1074=
ENST00000341676.9:c.3090G>A	ENSP00000341115.5:p.Pro1030=
ENST00000452699.5:c.3207G>A	ENSP00000413307.1:p.Pro1069=
ENST00000466561.1:n.1096G>A
ENST00000502418.1:c.810G>A	ENSP00000423065.1:p.Pro270=
XM_005245809.1:c.3222G>A	XP_005245866.1:p.Pro1074=
XM_005245810.1:c.3219G>A	XP_005245867.1:p.Pro1073=
XM_005245811.1:c.3207G>A	XP_005245868.1:p.Pro1069=
XM_005245812.1:c.3195G>A	XP_005245869.1:p.Pro1065=
XM_005245813.1:c.3162G>A	XP_005245870.1:p.Pro1054=
XM_005245815.1:c.3105G>A	XP_005245872.1:p.Pro1035=
XM_006710512.1:c.3204G>A	XP_006710575.1:p.Pro1068=
XM_006710513.1:c.3180G>A	XP_006710576.1:p.Pro1060=
XM_011541128.1:c.3207G>A	XP_011539430.1:p.Pro1069=
XM_011541129.1:c.3015G>A	XP_011539431.1:p.Pro1005=
XM_017000844.1:c.3207G>A	XP_016856333.1:p.Pro1069=
XM_017000845.1:c.3204G>A	XP_016856334.1:p.Pro1068=
XM_017000846.1:c.3180G>A	XP_016856335.1:p.Pro1060=
XM_017000847.1:c.3177G>A	XP_016856336.1:p.Pro1059=
XM_017000848.1:c.3105G>A	XP_016856337.1:p.Pro1035=
XM_017000849.1:c.3090G>A	XP_016856338.1:p.Pro1030=
XM_017000850.1:c.3015G>A	XP_016856339.1:p.Pro1005=