Canonical Allele Identifier: CA338244150

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16992019G>A , CM000663.2:g.16992019G>A	GRCh38
NC_000001.10:g.17318514G>A , CM000663.1:g.17318514G>A	GRCh37
NC_000001.9:g.17191101G>A	NCBI36
NG_009054.1:g.24910C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.2116C>T MANE Select	NP_071372.1:p.Gln706Ter
ENST00000326735.13:c.2116C>T MANE Select	ENSP00000327214.8:p.Gln706Ter
NM_001141973.2:c.2101C>T	NP_001135445.1:p.Gln701Ter
NM_001141973.3:c.2101C>T	NP_001135445.1:p.Gln701Ter
NM_001141974.2:c.2101C>T	NP_001135446.1:p.Gln701Ter
NM_001141974.3:c.2101C>T	NP_001135446.1:p.Gln701Ter
NM_022089.3:c.2116C>T	NP_071372.1:p.Gln706Ter
ENST00000326735.12:c.2116C>T	ENSP00000327214.8:p.Gln706Ter
ENST00000341676.9:c.2101C>T	ENSP00000341115.5:p.Gln701Ter
ENST00000452699.5:c.2101C>T	ENSP00000413307.1:p.Gln701Ter
ENST00000503552.1:c.526C>T	ENSP00000421126.1:p.Gln176Ter
XM_005245809.1:c.2116C>T	XP_005245866.1:p.Gln706Ter
XM_005245810.1:c.2113C>T	XP_005245867.1:p.Gln705Ter
XM_005245811.1:c.2101C>T	XP_005245868.1:p.Gln701Ter
XM_005245812.1:c.2089C>T	XP_005245869.1:p.Gln697Ter
XM_005245813.1:c.2056C>T	XP_005245870.1:p.Gln686Ter
XM_005245815.1:c.2116C>T	XP_005245872.1:p.Gln706Ter
XM_006710512.1:c.2098C>T	XP_006710575.1:p.Gln700Ter
XM_006710513.1:c.2074C>T	XP_006710576.1:p.Gln692Ter
XM_011541128.1:c.2101C>T	XP_011539430.1:p.Gln701Ter
XM_011541129.1:c.1909C>T	XP_011539431.1:p.Gln637Ter
XM_017000844.1:c.2101C>T	XP_016856333.1:p.Gln701Ter
XM_017000845.1:c.2098C>T	XP_016856334.1:p.Gln700Ter
XM_017000846.1:c.2074C>T	XP_016856335.1:p.Gln692Ter
XM_017000847.1:c.2071C>T	XP_016856336.1:p.Gln691Ter
XM_017000848.1:c.2116C>T	XP_016856337.1:p.Gln706Ter
XM_017000849.1:c.2101C>T	XP_016856338.1:p.Gln701Ter
XM_017000850.1:c.1909C>T	XP_016856339.1:p.Gln637Ter