Canonical Allele Identifier: CA637500

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17000495C>T , CM000663.2:g.17000495C>T	GRCh38
NC_000001.10:g.17326990C>T , CM000663.1:g.17326990C>T	GRCh37
NC_000001.9:g.17199577C>T	NCBI36
NG_009054.1:g.16434G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.745G>A MANE Select	NP_071372.1:p.Ala249Thr
ENST00000326735.13:c.745G>A MANE Select	ENSP00000327214.8:p.Ala249Thr
NM_001141973.2:c.730G>A	NP_001135445.1:p.Ala244Thr
NM_001141973.3:c.730G>A	NP_001135445.1:p.Ala244Thr
NM_001141974.2:c.730G>A	NP_001135446.1:p.Ala244Thr
NM_001141974.3:c.730G>A	NP_001135446.1:p.Ala244Thr
NM_022089.3:c.745G>A	NP_071372.1:p.Ala249Thr
ENST00000326735.12:c.745G>A	ENSP00000327214.8:p.Ala249Thr
ENST00000341676.9:c.730G>A	ENSP00000341115.5:p.Ala244Thr
ENST00000452699.5:c.730G>A	ENSP00000413307.1:p.Ala244Thr
ENST00000463860.5:n.353G>A
ENST00000508222.5:c.437G>A
ENST00000510069.5:c.668G>A
ENST00000511957.5:c.430G>A	ENSP00000427241.1:p.Ala144Thr
ENST00000617114.4:c.-117G>A	ENSP00000478781.1:n.-117G>A
XM_005245809.1:c.745G>A	XP_005245866.1:p.Ala249Thr
XM_005245810.1:c.742G>A	XP_005245867.1:p.Ala248Thr
XM_005245811.1:c.730G>A	XP_005245868.1:p.Ala244Thr
XM_005245812.1:c.718G>A	XP_005245869.1:p.Ala240Thr
XM_005245813.1:c.745G>A	XP_005245870.1:p.Ala249Thr
XM_005245815.1:c.745G>A	XP_005245872.1:p.Ala249Thr
XM_006710512.1:c.727G>A	XP_006710575.1:p.Ala243Thr
XM_006710513.1:c.703G>A	XP_006710576.1:p.Ala235Thr
XM_011541128.1:c.745G>A	XP_011539430.1:p.Ala249Thr
XM_011541129.1:c.745G>A	XP_011539431.1:p.Ala249Thr
XM_017000844.1:c.745G>A	XP_016856333.1:p.Ala249Thr
XM_017000845.1:c.727G>A	XP_016856334.1:p.Ala243Thr
XM_017000846.1:c.703G>A	XP_016856335.1:p.Ala235Thr
XM_017000847.1:c.715G>A	XP_016856336.1:p.Ala239Thr
XM_017000848.1:c.745G>A	XP_016856337.1:p.Ala249Thr
XM_017000849.1:c.730G>A	XP_016856338.1:p.Ala244Thr
XM_017000850.1:c.745G>A	XP_016856339.1:p.Ala249Thr