Canonical Allele Identifier: CA338232578

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2923070
• ClinVar RCV Id: RCV003780188
• dbSNP Id: rs1220221077
• gnomAD v2: 1-17312845-T-C
• gnomAD v3: 1-16986350-T-C
• gnomAD v4: 1-16986350-T-C
• MyVariant Identifiers: chr1:g.17312845T>C (hg19) ; chr1:g.16986350T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986350T>C , CM000663.2:g.16986350T>C	GRCh38
NC_000001.10:g.17312845T>C , CM000663.1:g.17312845T>C	GRCh37
NC_000001.9:g.17185432T>C	NCBI36
NG_009054.1:g.30579A>G
NG_029688.1:g.237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3414A>G MANE Select	ENSP00000327214.8:p.Leu1138=
ENST00000326735.12:c.3414A>G	ENSP00000327214.8:p.Leu1138=
ENST00000341676.9:c.3112A>G	ENSP00000341115.5:p.Arg1038Gly
ENST00000452699.5:c.3399A>G	ENSP00000413307.1:p.Leu1133=
ENST00000466561.1:n.1460A>G
ENST00000502418.1:c.832A>G	ENSP00000423065.1:p.Arg278Gly
NM_001141973.2:c.3399A>G	NP_001135445.1:p.Leu1133=
NM_001141974.2:c.3112A>G	NP_001135446.1:p.Arg1038Gly
NM_022089.3:c.3414A>G	NP_071372.1:p.Leu1138=
XM_005245809.1:c.3244A>G	XP_005245866.1:p.Arg1082Gly
XM_005245810.1:c.3241A>G	XP_005245867.1:p.Arg1081Gly
XM_005245811.1:c.3229A>G	XP_005245868.1:p.Arg1077Gly
XM_005245812.1:c.3217A>G	XP_005245869.1:p.Arg1073Gly
XM_005245813.1:c.3184A>G	XP_005245870.1:p.Arg1062Gly
XM_005245815.1:c.3127A>G	XP_005245872.1:p.Arg1043Gly
XM_006710512.1:c.3226A>G	XP_006710575.1:p.Arg1076Gly
XM_006710513.1:c.3202A>G	XP_006710576.1:p.Arg1068Gly
XM_011541128.1:c.3229A>G	XP_011539430.1:p.Arg1077Gly
XM_011541129.1:c.3037A>G	XP_011539431.1:p.Arg1013Gly
XM_017000844.1:c.3399A>G	XP_016856333.1:p.Leu1133=
XM_017000845.1:c.3396A>G	XP_016856334.1:p.Leu1132=
XM_017000846.1:c.3372A>G	XP_016856335.1:p.Leu1124=
XM_017000847.1:c.3369A>G	XP_016856336.1:p.Leu1123=
XM_017000848.1:c.3297A>G	XP_016856337.1:p.Leu1099=
XM_017000849.1:c.3282A>G	XP_016856338.1:p.Leu1094=
XM_017000850.1:c.3207A>G	XP_016856339.1:p.Leu1069=
NM_022089.4:c.3414A>G MANE Select	NP_071372.1:p.Leu1138=
NM_001141973.3:c.3399A>G	NP_001135445.1:p.Leu1133=
NM_001141974.3:c.3112A>G	NP_001135446.1:p.Arg1038Gly