Canonical Allele Identifier: CA636415

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986066G>A , CM000663.2:g.16986066G>A	GRCh38
NC_000001.10:g.17312561G>A , CM000663.1:g.17312561G>A	GRCh37
NC_000001.9:g.17185148G>A	NCBI36
NG_009054.1:g.30863C>T
NG_029688.1:g.521C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.*155C>T MANE Select	NP_071372.1:n.*155C>T
ENST00000326735.13:c.*155C>T MANE Select	ENSP00000327214.8:n.*155C>T
NM_001141973.2:c.*155C>T	NP_001135445.1:n.*155C>T
NM_001141973.3:c.*155C>T	NP_001135445.1:n.*155C>T
NM_001141974.2:c.3396C>T	NP_001135446.1:p.Ser1132=
NM_001141974.3:c.3396C>T	NP_001135446.1:p.Ser1132=
NM_022089.3:c.*155C>T	NP_071372.1:n.*155C>T
ENST00000326735.12:c.*155C>T	ENSP00000327214.8:n.*155C>T
ENST00000341676.9:c.3396C>T	ENSP00000341115.5:p.Ser1132=
ENST00000452699.5:c.*155C>T	ENSP00000413307.1:n.*155C>T
ENST00000466561.1:n.1744C>T
ENST00000502418.1:c.1116C>T	ENSP00000423065.1:p.Ser372=
XM_005245809.1:c.3528C>T	XP_005245866.1:p.Ser1176=
XM_005245810.1:c.3525C>T	XP_005245867.1:p.Ser1175=
XM_005245811.1:c.3513C>T	XP_005245868.1:p.Ser1171=
XM_005245812.1:c.3501C>T	XP_005245869.1:p.Ser1167=
XM_005245813.1:c.3468C>T	XP_005245870.1:p.Ser1156=
XM_005245815.1:c.3411C>T	XP_005245872.1:p.Ser1137=
XM_006710512.1:c.3510C>T	XP_006710575.1:p.Ser1170=
XM_006710513.1:c.3486C>T	XP_006710576.1:p.Ser1162=
XM_011541128.1:c.3513C>T	XP_011539430.1:p.Ser1171=
XM_011541129.1:c.3321C>T	XP_011539431.1:p.Ser1107=
XM_017000844.1:c.*155C>T	XP_016856333.1:n.*155C>T
XM_017000845.1:c.*155C>T	XP_016856334.1:n.*155C>T
XM_017000846.1:c.*155C>T	XP_016856335.1:n.*155C>T
XM_017000847.1:c.*155C>T	XP_016856336.1:n.*155C>T
XM_017000848.1:c.*155C>T	XP_016856337.1:n.*155C>T
XM_017000849.1:c.*155C>T	XP_016856338.1:n.*155C>T
XM_017000850.1:c.*155C>T	XP_016856339.1:n.*155C>T