Canonical Allele Identifier: CA338232591

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1634070
• ClinVar RCV Id: RCV002124328
• dbSNP Id: rs2100629081
• MyVariant Identifiers: chr1:g.17312848C>G (hg19) ; chr1:g.16986353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986353C>G , CM000663.2:g.16986353C>G	GRCh38
NC_000001.10:g.17312848C>G , CM000663.1:g.17312848C>G	GRCh37
NC_000001.9:g.17185435C>G	NCBI36
NG_009054.1:g.30576G>C
NG_029688.1:g.234G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3411G>C MANE Select	ENSP00000327214.8:p.Val1137=
ENST00000326735.12:c.3411G>C	ENSP00000327214.8:p.Val1137=
ENST00000341676.9:c.3109G>C	ENSP00000341115.5:p.Ala1037Pro
ENST00000452699.5:c.3396G>C	ENSP00000413307.1:p.Val1132=
ENST00000466561.1:n.1457G>C
ENST00000502418.1:c.829G>C	ENSP00000423065.1:p.Ala277Pro
NM_001141973.2:c.3396G>C	NP_001135445.1:p.Val1132=
NM_001141974.2:c.3109G>C	NP_001135446.1:p.Ala1037Pro
NM_022089.3:c.3411G>C	NP_071372.1:p.Val1137=
XM_005245809.1:c.3241G>C	XP_005245866.1:p.Ala1081Pro
XM_005245810.1:c.3238G>C	XP_005245867.1:p.Ala1080Pro
XM_005245811.1:c.3226G>C	XP_005245868.1:p.Ala1076Pro
XM_005245812.1:c.3214G>C	XP_005245869.1:p.Ala1072Pro
XM_005245813.1:c.3181G>C	XP_005245870.1:p.Ala1061Pro
XM_005245815.1:c.3124G>C	XP_005245872.1:p.Ala1042Pro
XM_006710512.1:c.3223G>C	XP_006710575.1:p.Ala1075Pro
XM_006710513.1:c.3199G>C	XP_006710576.1:p.Ala1067Pro
XM_011541128.1:c.3226G>C	XP_011539430.1:p.Ala1076Pro
XM_011541129.1:c.3034G>C	XP_011539431.1:p.Ala1012Pro
XM_017000844.1:c.3396G>C	XP_016856333.1:p.Val1132=
XM_017000845.1:c.3393G>C	XP_016856334.1:p.Val1131=
XM_017000846.1:c.3369G>C	XP_016856335.1:p.Val1123=
XM_017000847.1:c.3366G>C	XP_016856336.1:p.Val1122=
XM_017000848.1:c.3294G>C	XP_016856337.1:p.Val1098=
XM_017000849.1:c.3279G>C	XP_016856338.1:p.Val1093=
XM_017000850.1:c.3204G>C	XP_016856339.1:p.Val1068=
NM_022089.4:c.3411G>C MANE Select	NP_071372.1:p.Val1137=
NM_001141973.3:c.3396G>C	NP_001135445.1:p.Val1132=
NM_001141974.3:c.3109G>C	NP_001135446.1:p.Ala1037Pro