Canonical Allele Identifier: CA2740113482

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986147T>C , CM000663.2:g.16986147T>C	GRCh38
NC_000001.10:g.17312642T>C , CM000663.1:g.17312642T>C	GRCh37
NC_000001.9:g.17185229T>C	NCBI36
NG_009054.1:g.30782A>G
NG_029688.1:g.440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*74A>G MANE Select	ENSP00000327214.8:n.*74A>G
ENST00000326735.12:c.*74A>G	ENSP00000327214.8:n.*74A>G
ENST00000341676.9:c.3315A>G	ENSP00000341115.5:p.Thr1105=
ENST00000452699.5:c.*74A>G	ENSP00000413307.1:n.*74A>G
ENST00000466561.1:n.1663A>G
ENST00000502418.1:c.1035A>G	ENSP00000423065.1:p.Thr345=
NM_001141973.2:c.*74A>G	NP_001135445.1:n.*74A>G
NM_001141974.2:c.3315A>G	NP_001135446.1:p.Thr1105=
NM_022089.3:c.*74A>G	NP_071372.1:n.*74A>G
XM_005245809.1:c.3447A>G	XP_005245866.1:p.Thr1149=
XM_005245810.1:c.3444A>G	XP_005245867.1:p.Thr1148=
XM_005245811.1:c.3432A>G	XP_005245868.1:p.Thr1144=
XM_005245812.1:c.3420A>G	XP_005245869.1:p.Thr1140=
XM_005245813.1:c.3387A>G	XP_005245870.1:p.Thr1129=
XM_005245815.1:c.3330A>G	XP_005245872.1:p.Thr1110=
XM_006710512.1:c.3429A>G	XP_006710575.1:p.Thr1143=
XM_006710513.1:c.3405A>G	XP_006710576.1:p.Thr1135=
XM_011541128.1:c.3432A>G	XP_011539430.1:p.Thr1144=
XM_011541129.1:c.3240A>G	XP_011539431.1:p.Thr1080=
XM_017000844.1:c.*74A>G	XP_016856333.1:n.*74A>G
XM_017000845.1:c.*74A>G	XP_016856334.1:n.*74A>G
XM_017000846.1:c.*74A>G	XP_016856335.1:n.*74A>G
XM_017000847.1:c.*74A>G	XP_016856336.1:n.*74A>G
XM_017000848.1:c.*74A>G	XP_016856337.1:n.*74A>G
XM_017000849.1:c.*74A>G	XP_016856338.1:n.*74A>G
XM_017000850.1:c.*74A>G	XP_016856339.1:n.*74A>G
NM_022089.4:c.*74A>G MANE Select	NP_071372.1:n.*74A>G
NM_001141973.3:c.*74A>G	NP_001135445.1:n.*74A>G
NM_001141974.3:c.3315A>G	NP_001135446.1:p.Thr1105=