Canonical Allele Identifier: CA1156027104

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16993828G= , CM000663.2:g.16993828G=	GRCh38
NC_000001.10:g.17320323G= , CM000663.1:g.17320323G=	GRCh37
NC_000001.9:g.17192910G=	NCBI36
NG_009054.1:g.23101C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1550C= MANE Select	ENSP00000327214.8:p.Thr517=
ENST00000326735.12:c.1550C=	ENSP00000327214.8:p.Thr517=
ENST00000341676.9:c.1535C=	ENSP00000341115.5:p.Thr512=
ENST00000452699.5:c.1535C=	ENSP00000413307.1:p.Thr512=
ENST00000503552.1:c.220-1247C=	ENSP00000421126.1:n.220-1247C=
NM_001141973.2:c.1535C=	NP_001135445.1:p.Thr512=
NM_001141974.2:c.1535C=	NP_001135446.1:p.Thr512=
NM_022089.3:c.1550C=	NP_071372.1:p.Thr517=
XM_005245809.1:c.1550C=	XP_005245866.1:p.Thr517=
XM_005245810.1:c.1547C=	XP_005245867.1:p.Thr516=
XM_005245811.1:c.1535C=	XP_005245868.1:p.Thr512=
XM_005245812.1:c.1523C=	XP_005245869.1:p.Thr508=
XM_005245813.1:c.1550C=	XP_005245870.1:p.Thr517=
XM_005245815.1:c.1550C=	XP_005245872.1:p.Thr517=
XM_006710512.1:c.1532C=	XP_006710575.1:p.Thr511=
XM_006710513.1:c.1508C=	XP_006710576.1:p.Thr503=
XM_011541128.1:c.1535C=	XP_011539430.1:p.Thr512=
XM_011541129.1:c.1543-1247C=	XP_011539431.1:n.1543-1247C=
XM_017000844.1:c.1535C=	XP_016856333.1:p.Thr512=
XM_017000845.1:c.1532C=	XP_016856334.1:p.Thr511=
XM_017000846.1:c.1508C=	XP_016856335.1:p.Thr503=
XM_017000847.1:c.1505C=	XP_016856336.1:p.Thr502=
XM_017000848.1:c.1550C=	XP_016856337.1:p.Thr517=
XM_017000849.1:c.1535C=	XP_016856338.1:p.Thr512=
XM_017000850.1:c.1543-1247C=	XP_016856339.1:n.1543-1247C=
NM_022089.4:c.1550C= MANE Select	NP_071372.1:p.Thr517=
NM_001141973.3:c.1535C=	NP_001135445.1:p.Thr512=
NM_001141974.3:c.1535C=	NP_001135446.1:p.Thr512=