Canonical Allele Identifier: CA338232205

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312767T>A (hg19) ; chr1:g.16986272T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986272T>A , CM000663.2:g.16986272T>A	GRCh38
NC_000001.10:g.17312767T>A , CM000663.1:g.17312767T>A	GRCh37
NC_000001.9:g.17185354T>A	NCBI36
NG_009054.1:g.30657A>T
NG_029688.1:g.315A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3492A>T MANE Select	ENSP00000327214.8:p.Arg1164=
ENST00000326735.12:c.3492A>T	ENSP00000327214.8:p.Arg1164=
ENST00000341676.9:c.3190A>T	ENSP00000341115.5:p.Arg1064Ter
ENST00000452699.5:c.3477A>T	ENSP00000413307.1:p.Arg1159=
ENST00000466561.1:n.1538A>T
ENST00000502418.1:c.910A>T	ENSP00000423065.1:p.Arg304Ter
NM_001141973.2:c.3477A>T	NP_001135445.1:p.Arg1159=
NM_001141974.2:c.3190A>T	NP_001135446.1:p.Arg1064Ter
NM_022089.3:c.3492A>T	NP_071372.1:p.Arg1164=
XM_005245809.1:c.3322A>T	XP_005245866.1:p.Arg1108Ter
XM_005245810.1:c.3319A>T	XP_005245867.1:p.Arg1107Ter
XM_005245811.1:c.3307A>T	XP_005245868.1:p.Arg1103Ter
XM_005245812.1:c.3295A>T	XP_005245869.1:p.Arg1099Ter
XM_005245813.1:c.3262A>T	XP_005245870.1:p.Arg1088Ter
XM_005245815.1:c.3205A>T	XP_005245872.1:p.Arg1069Ter
XM_006710512.1:c.3304A>T	XP_006710575.1:p.Arg1102Ter
XM_006710513.1:c.3280A>T	XP_006710576.1:p.Arg1094Ter
XM_011541128.1:c.3307A>T	XP_011539430.1:p.Arg1103Ter
XM_011541129.1:c.3115A>T	XP_011539431.1:p.Arg1039Ter
XM_017000844.1:c.3477A>T	XP_016856333.1:p.Arg1159=
XM_017000845.1:c.3474A>T	XP_016856334.1:p.Arg1158=
XM_017000846.1:c.3450A>T	XP_016856335.1:p.Arg1150=
XM_017000847.1:c.3447A>T	XP_016856336.1:p.Arg1149=
XM_017000848.1:c.3375A>T	XP_016856337.1:p.Arg1125=
XM_017000849.1:c.3360A>T	XP_016856338.1:p.Arg1120=
XM_017000850.1:c.3285A>T	XP_016856339.1:p.Arg1095=
NM_022089.4:c.3492A>T MANE Select	NP_071372.1:p.Arg1164=
NM_001141973.3:c.3477A>T	NP_001135445.1:p.Arg1159=
NM_001141974.3:c.3190A>T	NP_001135446.1:p.Arg1064Ter