Canonical Allele Identifier: CA636488

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2951461
• ClinVar RCV Id: RCV003805163
• dbSNP Id: rs779310083
• ExAC: 1:17312851 G / A
• gnomAD v2: 1-17312851-G-A
• gnomAD v3: 1-16986356-G-A
• gnomAD v4: 1-16986356-G-A
• MyVariant Identifiers: chr1:g.17312851G>A (hg19) ; chr1:g.16986356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986356G>A , CM000663.2:g.16986356G>A	GRCh38
NC_000001.10:g.17312851G>A , CM000663.1:g.17312851G>A	GRCh37
NC_000001.9:g.17185438G>A	NCBI36
NG_009054.1:g.30573C>T
NG_029688.1:g.231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3408C>T MANE Select	ENSP00000327214.8:p.Ser1136=
ENST00000326735.12:c.3408C>T	ENSP00000327214.8:p.Ser1136=
ENST00000341676.9:c.3106C>T	ENSP00000341115.5:p.Arg1036Cys
ENST00000452699.5:c.3393C>T	ENSP00000413307.1:p.Ser1131=
ENST00000466561.1:n.1454C>T
ENST00000502418.1:c.826C>T	ENSP00000423065.1:p.Arg276Cys
NM_001141973.2:c.3393C>T	NP_001135445.1:p.Ser1131=
NM_001141974.2:c.3106C>T	NP_001135446.1:p.Arg1036Cys
NM_022089.3:c.3408C>T	NP_071372.1:p.Ser1136=
XM_005245809.1:c.3238C>T	XP_005245866.1:p.Arg1080Cys
XM_005245810.1:c.3235C>T	XP_005245867.1:p.Arg1079Cys
XM_005245811.1:c.3223C>T	XP_005245868.1:p.Arg1075Cys
XM_005245812.1:c.3211C>T	XP_005245869.1:p.Arg1071Cys
XM_005245813.1:c.3178C>T	XP_005245870.1:p.Arg1060Cys
XM_005245815.1:c.3121C>T	XP_005245872.1:p.Arg1041Cys
XM_006710512.1:c.3220C>T	XP_006710575.1:p.Arg1074Cys
XM_006710513.1:c.3196C>T	XP_006710576.1:p.Arg1066Cys
XM_011541128.1:c.3223C>T	XP_011539430.1:p.Arg1075Cys
XM_011541129.1:c.3031C>T	XP_011539431.1:p.Arg1011Cys
XM_017000844.1:c.3393C>T	XP_016856333.1:p.Ser1131=
XM_017000845.1:c.3390C>T	XP_016856334.1:p.Ser1130=
XM_017000846.1:c.3366C>T	XP_016856335.1:p.Ser1122=
XM_017000847.1:c.3363C>T	XP_016856336.1:p.Ser1121=
XM_017000848.1:c.3291C>T	XP_016856337.1:p.Ser1097=
XM_017000849.1:c.3276C>T	XP_016856338.1:p.Ser1092=
XM_017000850.1:c.3201C>T	XP_016856339.1:p.Ser1067=
NM_022089.4:c.3408C>T MANE Select	NP_071372.1:p.Ser1136=
NM_001141973.3:c.3393C>T	NP_001135445.1:p.Ser1131=
NM_001141974.3:c.3106C>T	NP_001135446.1:p.Arg1036Cys