Canonical Allele Identifier: CA205846

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16988138C>T , CM000663.2:g.16988138C>T	GRCh38
NC_000001.10:g.17314633C>T , CM000663.1:g.17314633C>T	GRCh37
NC_000001.9:g.17187220C>T	NCBI36
NG_009054.1:g.28791G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.2859G>A MANE Select	NP_071372.1:p.Thr953=
ENST00000326735.13:c.2859G>A MANE Select	ENSP00000327214.8:p.Thr953=
NM_001141973.2:c.2844G>A	NP_001135445.1:p.Thr948=
NM_001141973.3:c.2844G>A	NP_001135445.1:p.Thr948=
NM_001141974.2:c.2727G>A	NP_001135446.1:p.Thr909=
NM_001141974.3:c.2727G>A	NP_001135446.1:p.Thr909=
NM_022089.3:c.2859G>A	NP_071372.1:p.Thr953=
ENST00000326735.12:c.2859G>A	ENSP00000327214.8:p.Thr953=
ENST00000341676.9:c.2727G>A	ENSP00000341115.5:p.Thr909=
ENST00000452699.5:c.2844G>A	ENSP00000413307.1:p.Thr948=
ENST00000466561.1:n.733G>A
ENST00000502418.1:c.447G>A	ENSP00000423065.1:p.Thr149=
XM_005245809.1:c.2859G>A	XP_005245866.1:p.Thr953=
XM_005245810.1:c.2856G>A	XP_005245867.1:p.Thr952=
XM_005245811.1:c.2844G>A	XP_005245868.1:p.Thr948=
XM_005245812.1:c.2832G>A	XP_005245869.1:p.Thr944=
XM_005245813.1:c.2799G>A	XP_005245870.1:p.Thr933=
XM_005245815.1:c.2742G>A	XP_005245872.1:p.Thr914=
XM_006710512.1:c.2841G>A	XP_006710575.1:p.Thr947=
XM_006710513.1:c.2817G>A	XP_006710576.1:p.Thr939=
XM_011541128.1:c.2844G>A	XP_011539430.1:p.Thr948=
XM_011541129.1:c.2652G>A	XP_011539431.1:p.Thr884=
XM_017000844.1:c.2844G>A	XP_016856333.1:p.Thr948=
XM_017000845.1:c.2841G>A	XP_016856334.1:p.Thr947=
XM_017000846.1:c.2817G>A	XP_016856335.1:p.Thr939=
XM_017000847.1:c.2814G>A	XP_016856336.1:p.Thr938=
XM_017000848.1:c.2742G>A	XP_016856337.1:p.Thr914=
XM_017000849.1:c.2727G>A	XP_016856338.1:p.Thr909=
XM_017000850.1:c.2652G>A	XP_016856339.1:p.Thr884=