Canonical Allele Identifier: CA1156048608

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986017G= , CM000663.2:g.16986017G=	GRCh38
NC_000001.10:g.17312512G= , CM000663.1:g.17312512G=	GRCh37
NC_000001.9:g.17185099G=	NCBI36
NG_009054.1:g.30912C=
NG_029688.1:g.570C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*204C= MANE Select	ENSP00000327214.8:n.*204C=
ENST00000326735.12:c.*204C=	ENSP00000327214.8:n.*204C=
ENST00000341676.9:c.3445C=	ENSP00000341115.5:p.Pro1149=
ENST00000452699.5:c.*204C=	ENSP00000413307.1:n.*204C=
ENST00000466561.1:n.1793C=
ENST00000502418.1:c.1165C=	ENSP00000423065.1:p.Pro389=
NM_001141973.2:c.*204C=	NP_001135445.1:n.*204C=
NM_001141974.2:c.3445C=	NP_001135446.1:p.Pro1149=
NM_022089.3:c.*204C=	NP_071372.1:n.*204C=
XM_005245809.1:c.3577C=	XP_005245866.1:p.Pro1193=
XM_005245810.1:c.3574C=	XP_005245867.1:p.Pro1192=
XM_005245811.1:c.3562C=	XP_005245868.1:p.Pro1188=
XM_005245812.1:c.3550C=	XP_005245869.1:p.Pro1184=
XM_005245813.1:c.3517C=	XP_005245870.1:p.Pro1173=
XM_005245815.1:c.3460C=	XP_005245872.1:p.Pro1154=
XM_006710512.1:c.3559C=	XP_006710575.1:p.Pro1187=
XM_006710513.1:c.3535C=	XP_006710576.1:p.Pro1179=
XM_011541128.1:c.3562C=	XP_011539430.1:p.Pro1188=
XM_011541129.1:c.3370C=	XP_011539431.1:p.Pro1124=
XM_017000844.1:c.*204C=	XP_016856333.1:n.*204C=
XM_017000845.1:c.*204C=	XP_016856334.1:n.*204C=
XM_017000846.1:c.*204C=	XP_016856335.1:n.*204C=
XM_017000847.1:c.*204C=	XP_016856336.1:n.*204C=
XM_017000848.1:c.*204C=	XP_016856337.1:n.*204C=
XM_017000849.1:c.*204C=	XP_016856338.1:n.*204C=
XM_017000850.1:c.*204C=	XP_016856339.1:n.*204C=
NM_022089.4:c.*204C= MANE Select	NP_071372.1:n.*204C=
NM_001141973.3:c.*204C=	NP_001135445.1:n.*204C=
NM_001141974.3:c.3445C=	NP_001135446.1:p.Pro1149=