Canonical Allele Identifier: CA338254926

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1372075
• ClinVar RCV Id: RCV001872719
• dbSNP Id: rs2100897670
• gnomAD v4: 1-16996496-C-T
• MyVariant Identifiers: chr1:g.17322991C>T (hg19) ; chr1:g.16996496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996496C>T , CM000663.2:g.16996496C>T	GRCh38
NC_000001.10:g.17322991C>T , CM000663.1:g.17322991C>T	GRCh37
NC_000001.9:g.17195578C>T	NCBI36
NG_009054.1:g.20433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1196G>A MANE Select	ENSP00000327214.8:p.Gly399Glu
ENST00000326735.12:c.1196G>A	ENSP00000327214.8:p.Gly399Glu
ENST00000341676.9:c.1181G>A	ENSP00000341115.5:p.Gly394Glu
ENST00000452699.5:c.1181G>A	ENSP00000413307.1:p.Gly394Glu
ENST00000463860.5:n.804G>A
ENST00000502860.1:n.335-196G>A
ENST00000506174.5:c.356-18G>A	ENSP00000424393.1:n.356-18G>A
ENST00000509392.1:n.199G>A
ENST00000617114.4:c.335-196G>A	ENSP00000478781.1:n.335-196G>A
NM_001141973.2:c.1181G>A	NP_001135445.1:p.Gly394Glu
NM_001141974.2:c.1181G>A	NP_001135446.1:p.Gly394Glu
NM_022089.3:c.1196G>A	NP_071372.1:p.Gly399Glu
XM_005245809.1:c.1196G>A	XP_005245866.1:p.Gly399Glu
XM_005245810.1:c.1193G>A	XP_005245867.1:p.Gly398Glu
XM_005245811.1:c.1181G>A	XP_005245868.1:p.Gly394Glu
XM_005245812.1:c.1169G>A	XP_005245869.1:p.Gly390Glu
XM_005245813.1:c.1196G>A	XP_005245870.1:p.Gly399Glu
XM_005245815.1:c.1196G>A	XP_005245872.1:p.Gly399Glu
XM_006710512.1:c.1178G>A	XP_006710575.1:p.Gly393Glu
XM_006710513.1:c.1154G>A	XP_006710576.1:p.Gly385Glu
XM_011541128.1:c.1196G>A	XP_011539430.1:p.Gly399Glu
XM_011541129.1:c.1196G>A	XP_011539431.1:p.Gly399Glu
XM_017000844.1:c.1196G>A	XP_016856333.1:p.Gly399Glu
XM_017000845.1:c.1178G>A	XP_016856334.1:p.Gly393Glu
XM_017000846.1:c.1154G>A	XP_016856335.1:p.Gly385Glu
XM_017000847.1:c.1166G>A	XP_016856336.1:p.Gly389Glu
XM_017000848.1:c.1196G>A	XP_016856337.1:p.Gly399Glu
XM_017000849.1:c.1181G>A	XP_016856338.1:p.Gly394Glu
XM_017000850.1:c.1196G>A	XP_016856339.1:p.Gly399Glu
NM_022089.4:c.1196G>A MANE Select	NP_071372.1:p.Gly399Glu
NM_001141973.3:c.1181G>A	NP_001135445.1:p.Gly394Glu
NM_001141974.3:c.1181G>A	NP_001135446.1:p.Gly394Glu