Canonical Allele Identifier: CA999084957

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2076708329

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986138dup , CM000663.2:g.16986138dup	GRCh38
NC_000001.10:g.17312633dup , CM000663.1:g.17312633dup	GRCh37
NC_000001.9:g.17185220dup	NCBI36
NG_009054.1:g.30791dup
NG_029688.1:g.449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*83dup MANE Select	ENSP00000327214.8:n.*83dup
ENST00000326735.12:c.*83dup	ENSP00000327214.8:n.*83dup
ENST00000341676.9:c.3324dup	ENSP00000341115.5:p.Pro1109ThrfsTer26
ENST00000452699.5:c.*83dup	ENSP00000413307.1:n.*83dup
ENST00000466561.1:n.1672dup
ENST00000502418.1:c.1044dup	ENSP00000423065.1:p.Pro349ThrfsTer26
NM_001141973.2:c.*83dup	NP_001135445.1:n.*83dup
NM_001141974.2:c.3324dup	NP_001135446.1:p.Pro1109ThrfsTer26
NM_022089.3:c.*83dup	NP_071372.1:n.*83dup
XM_005245809.1:c.3456dup	XP_005245866.1:p.Pro1153ThrfsTer26
XM_005245810.1:c.3453dup	XP_005245867.1:p.Pro1152ThrfsTer26
XM_005245811.1:c.3441dup	XP_005245868.1:p.Pro1148ThrfsTer26
XM_005245812.1:c.3429dup	XP_005245869.1:p.Pro1144ThrfsTer26
XM_005245813.1:c.3396dup	XP_005245870.1:p.Pro1133ThrfsTer26
XM_005245815.1:c.3339dup	XP_005245872.1:p.Pro1114ThrfsTer26
XM_006710512.1:c.3438dup	XP_006710575.1:p.Pro1147ThrfsTer26
XM_006710513.1:c.3414dup	XP_006710576.1:p.Pro1139ThrfsTer26
XM_011541128.1:c.3441dup	XP_011539430.1:p.Pro1148ThrfsTer26
XM_011541129.1:c.3249dup	XP_011539431.1:p.Pro1084ThrfsTer26
XM_017000844.1:c.*83dup	XP_016856333.1:n.*83dup
XM_017000845.1:c.*83dup	XP_016856334.1:n.*83dup
XM_017000846.1:c.*83dup	XP_016856335.1:n.*83dup
XM_017000847.1:c.*83dup	XP_016856336.1:n.*83dup
XM_017000848.1:c.*83dup	XP_016856337.1:n.*83dup
XM_017000849.1:c.*83dup	XP_016856338.1:n.*83dup
XM_017000850.1:c.*83dup	XP_016856339.1:n.*83dup
NM_022089.4:c.*83dup MANE Select	NP_071372.1:n.*83dup
NM_001141973.3:c.*83dup	NP_001135445.1:n.*83dup
NM_001141974.3:c.3324dup	NP_001135446.1:p.Pro1109ThrfsTer26