Canonical Allele Identifier: CA151959

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 128473
• ClinVar RCV Id: RCV000116442 ; RCV000309613 ; RCV000675891 ; RCV001554137 ; RCV001511874 ; RCV002312032
• dbSNP Id: rs9435659
• ExAC: 1:17313343 G / A
• gnomAD v2: 1-17313343-G-A
• gnomAD v3: 1-16986848-G-A
• gnomAD v4: 1-16986848-G-A
• MyVariant Identifiers: chr1:g.17313343G>A (hg19) ; chr1:g.16986848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986848G>A , CM000663.2:g.16986848G>A	GRCh38
NC_000001.10:g.17313343G>A , CM000663.1:g.17313343G>A	GRCh37
NC_000001.9:g.17185930G>A	NCBI36
NG_009054.1:g.30081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3192C>T MANE Select	ENSP00000327214.8:p.Ala1064=
ENST00000326735.12:c.3192C>T	ENSP00000327214.8:p.Ala1064=
ENST00000341676.9:c.3060C>T	ENSP00000341115.5:p.Ala1020=
ENST00000452699.5:c.3177C>T	ENSP00000413307.1:p.Ala1059=
ENST00000466561.1:n.1066C>T
ENST00000502418.1:c.780C>T	ENSP00000423065.1:p.Ala260=
NM_001141973.2:c.3177C>T	NP_001135445.1:p.Ala1059=
NM_001141974.2:c.3060C>T	NP_001135446.1:p.Ala1020=
NM_022089.3:c.3192C>T	NP_071372.1:p.Ala1064=
XM_005245809.1:c.3192C>T	XP_005245866.1:p.Ala1064=
XM_005245810.1:c.3189C>T	XP_005245867.1:p.Ala1063=
XM_005245811.1:c.3177C>T	XP_005245868.1:p.Ala1059=
XM_005245812.1:c.3165C>T	XP_005245869.1:p.Ala1055=
XM_005245813.1:c.3132C>T	XP_005245870.1:p.Ala1044=
XM_005245815.1:c.3075C>T	XP_005245872.1:p.Ala1025=
XM_006710512.1:c.3174C>T	XP_006710575.1:p.Ala1058=
XM_006710513.1:c.3150C>T	XP_006710576.1:p.Ala1050=
XM_011541128.1:c.3177C>T	XP_011539430.1:p.Ala1059=
XM_011541129.1:c.2985C>T	XP_011539431.1:p.Ala995=
XM_017000844.1:c.3177C>T	XP_016856333.1:p.Ala1059=
XM_017000845.1:c.3174C>T	XP_016856334.1:p.Ala1058=
XM_017000846.1:c.3150C>T	XP_016856335.1:p.Ala1050=
XM_017000847.1:c.3147C>T	XP_016856336.1:p.Ala1049=
XM_017000848.1:c.3075C>T	XP_016856337.1:p.Ala1025=
XM_017000849.1:c.3060C>T	XP_016856338.1:p.Ala1020=
XM_017000850.1:c.2985C>T	XP_016856339.1:p.Ala995=
NM_022089.4:c.3192C>T MANE Select	NP_071372.1:p.Ala1064=
NM_001141973.3:c.3177C>T	NP_001135445.1:p.Ala1059=
NM_001141974.3:c.3060C>T	NP_001135446.1:p.Ala1020=