Canonical Allele Identifier: CA18625653

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1380896
• ClinVar RCV Id: RCV001921821
• dbSNP Id: rs377431904
• gnomAD v2: 1-17313342-C-A
• gnomAD v4: 1-16986847-C-A
• MyVariant Identifiers: chr1:g.17313342C>A (hg19) ; chr1:g.16986847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986847C>A , CM000663.2:g.16986847C>A	GRCh38
NC_000001.10:g.17313342C>A , CM000663.1:g.17313342C>A	GRCh37
NC_000001.9:g.17185929C>A	NCBI36
NG_009054.1:g.30082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3193G>T MANE Select	ENSP00000327214.8:p.Val1065Leu
ENST00000326735.12:c.3193G>T	ENSP00000327214.8:p.Val1065Leu
ENST00000341676.9:c.3061G>T	ENSP00000341115.5:p.Val1021Leu
ENST00000452699.5:c.3178G>T	ENSP00000413307.1:p.Val1060Leu
ENST00000466561.1:n.1067G>T
ENST00000502418.1:c.781G>T	ENSP00000423065.1:p.Val261Leu
NM_001141973.2:c.3178G>T	NP_001135445.1:p.Val1060Leu
NM_001141974.2:c.3061G>T	NP_001135446.1:p.Val1021Leu
NM_022089.3:c.3193G>T	NP_071372.1:p.Val1065Leu
XM_005245809.1:c.3193G>T	XP_005245866.1:p.Val1065Leu
XM_005245810.1:c.3190G>T	XP_005245867.1:p.Val1064Leu
XM_005245811.1:c.3178G>T	XP_005245868.1:p.Val1060Leu
XM_005245812.1:c.3166G>T	XP_005245869.1:p.Val1056Leu
XM_005245813.1:c.3133G>T	XP_005245870.1:p.Val1045Leu
XM_005245815.1:c.3076G>T	XP_005245872.1:p.Val1026Leu
XM_006710512.1:c.3175G>T	XP_006710575.1:p.Val1059Leu
XM_006710513.1:c.3151G>T	XP_006710576.1:p.Val1051Leu
XM_011541128.1:c.3178G>T	XP_011539430.1:p.Val1060Leu
XM_011541129.1:c.2986G>T	XP_011539431.1:p.Val996Leu
XM_017000844.1:c.3178G>T	XP_016856333.1:p.Val1060Leu
XM_017000845.1:c.3175G>T	XP_016856334.1:p.Val1059Leu
XM_017000846.1:c.3151G>T	XP_016856335.1:p.Val1051Leu
XM_017000847.1:c.3148G>T	XP_016856336.1:p.Val1050Leu
XM_017000848.1:c.3076G>T	XP_016856337.1:p.Val1026Leu
XM_017000849.1:c.3061G>T	XP_016856338.1:p.Val1021Leu
XM_017000850.1:c.2986G>T	XP_016856339.1:p.Val996Leu
NM_022089.4:c.3193G>T MANE Select	NP_071372.1:p.Val1065Leu
NM_001141973.3:c.3178G>T	NP_001135445.1:p.Val1060Leu
NM_001141974.3:c.3061G>T	NP_001135446.1:p.Val1021Leu