Canonical Allele Identifier: CA636530

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986571G>A , CM000663.2:g.16986571G>A	GRCh38
NC_000001.10:g.17313066G>A , CM000663.1:g.17313066G>A	GRCh37
NC_000001.9:g.17185653G>A	NCBI36
NG_009054.1:g.30358C>T
NG_029688.1:g.16C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.3297C>T MANE Select	NP_071372.1:p.Pro1099=
ENST00000326735.13:c.3297C>T MANE Select	ENSP00000327214.8:p.Pro1099=
NM_001141973.2:c.3282C>T	NP_001135445.1:p.Pro1094=
NM_001141973.3:c.3282C>T	NP_001135445.1:p.Pro1094=
NM_001141974.2:c.3104-213C>T	NP_001135446.1:n.3104-213C>T
NM_001141974.3:c.3104-213C>T	NP_001135446.1:n.3104-213C>T
NM_022089.3:c.3297C>T	NP_071372.1:p.Pro1099=
ENST00000326735.12:c.3297C>T	ENSP00000327214.8:p.Pro1099=
ENST00000341676.9:c.3104-213C>T	ENSP00000341115.5:n.3104-213C>T
ENST00000452699.5:c.3282C>T	ENSP00000413307.1:p.Pro1094=
ENST00000466561.1:n.1343C>T
ENST00000502418.1:c.824-213C>T	ENSP00000423065.1:n.824-213C>T
XM_005245809.1:c.3236-213C>T	XP_005245866.1:n.3236-213C>T
XM_005245810.1:c.3233-213C>T	XP_005245867.1:n.3233-213C>T
XM_005245811.1:c.3221-213C>T	XP_005245868.1:n.3221-213C>T
XM_005245812.1:c.3209-213C>T	XP_005245869.1:n.3209-213C>T
XM_005245813.1:c.3176-213C>T	XP_005245870.1:n.3176-213C>T
XM_005245815.1:c.3119-213C>T	XP_005245872.1:n.3119-213C>T
XM_006710512.1:c.3218-213C>T	XP_006710575.1:n.3218-213C>T
XM_006710513.1:c.3194-213C>T	XP_006710576.1:n.3194-213C>T
XM_011541128.1:c.3221-213C>T	XP_011539430.1:n.3221-213C>T
XM_011541129.1:c.3029-213C>T	XP_011539431.1:n.3029-213C>T
XM_017000844.1:c.3282C>T	XP_016856333.1:p.Pro1094=
XM_017000845.1:c.3279C>T	XP_016856334.1:p.Pro1093=
XM_017000846.1:c.3255C>T	XP_016856335.1:p.Pro1085=
XM_017000847.1:c.3252C>T	XP_016856336.1:p.Pro1084=
XM_017000848.1:c.3180C>T	XP_016856337.1:p.Pro1060=
XM_017000849.1:c.3165C>T	XP_016856338.1:p.Pro1055=
XM_017000850.1:c.3090C>T	XP_016856339.1:p.Pro1030=