Canonical Allele Identifier: CA636466

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1128805
• ClinVar RCV Id: RCV001461696 ; RCV002560369
• dbSNP Id: rs781135190
• ExAC: 1:17312758 G / A
• gnomAD v2: 1-17312758-G-A
• gnomAD v3: 1-16986263-G-A
• gnomAD v4: 1-16986263-G-A
• MyVariant Identifiers: chr1:g.17312758G>A (hg19) ; chr1:g.16986263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986263G>A , CM000663.2:g.16986263G>A	GRCh38
NC_000001.10:g.17312758G>A , CM000663.1:g.17312758G>A	GRCh37
NC_000001.9:g.17185345G>A	NCBI36
NG_009054.1:g.30666C>T
NG_029688.1:g.324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3501C>T MANE Select	ENSP00000327214.8:p.Ala1167=
ENST00000326735.12:c.3501C>T	ENSP00000327214.8:p.Ala1167=
ENST00000341676.9:c.3199C>T	ENSP00000341115.5:p.Arg1067Ter
ENST00000452699.5:c.3486C>T	ENSP00000413307.1:p.Ala1162=
ENST00000466561.1:n.1547C>T
ENST00000502418.1:c.919C>T	ENSP00000423065.1:p.Arg307Ter
NM_001141973.2:c.3486C>T	NP_001135445.1:p.Ala1162=
NM_001141974.2:c.3199C>T	NP_001135446.1:p.Arg1067Ter
NM_022089.3:c.3501C>T	NP_071372.1:p.Ala1167=
XM_005245809.1:c.3331C>T	XP_005245866.1:p.Arg1111Ter
XM_005245810.1:c.3328C>T	XP_005245867.1:p.Arg1110Ter
XM_005245811.1:c.3316C>T	XP_005245868.1:p.Arg1106Ter
XM_005245812.1:c.3304C>T	XP_005245869.1:p.Arg1102Ter
XM_005245813.1:c.3271C>T	XP_005245870.1:p.Arg1091Ter
XM_005245815.1:c.3214C>T	XP_005245872.1:p.Arg1072Ter
XM_006710512.1:c.3313C>T	XP_006710575.1:p.Arg1105Ter
XM_006710513.1:c.3289C>T	XP_006710576.1:p.Arg1097Ter
XM_011541128.1:c.3316C>T	XP_011539430.1:p.Arg1106Ter
XM_011541129.1:c.3124C>T	XP_011539431.1:p.Arg1042Ter
XM_017000844.1:c.3486C>T	XP_016856333.1:p.Ala1162=
XM_017000845.1:c.3483C>T	XP_016856334.1:p.Ala1161=
XM_017000846.1:c.3459C>T	XP_016856335.1:p.Ala1153=
XM_017000847.1:c.3456C>T	XP_016856336.1:p.Ala1152=
XM_017000848.1:c.3384C>T	XP_016856337.1:p.Ala1128=
XM_017000849.1:c.3369C>T	XP_016856338.1:p.Ala1123=
XM_017000850.1:c.3294C>T	XP_016856339.1:p.Ala1098=
NM_022089.4:c.3501C>T MANE Select	NP_071372.1:p.Ala1167=
NM_001141973.3:c.3486C>T	NP_001135445.1:p.Ala1162=
NM_001141974.3:c.3199C>T	NP_001135446.1:p.Arg1067Ter