Canonical Allele Identifier: CA890928552

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1711213
• ClinVar RCV Id: RCV002292729
• dbSNP Id: rs1452079880
• gnomAD v4: 1-16986204-G-A
• MyVariant Identifiers: chr1:g.17312699G>A (hg19) ; chr1:g.16986204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986204G>A , CM000663.2:g.16986204G>A	GRCh38
NC_000001.10:g.17312699G>A , CM000663.1:g.17312699G>A	GRCh37
NC_000001.9:g.17185286G>A	NCBI36
NG_009054.1:g.30725C>T
NG_029688.1:g.383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*17C>T MANE Select	ENSP00000327214.8:n.*17C>T
ENST00000326735.12:c.*17C>T	ENSP00000327214.8:n.*17C>T
ENST00000341676.9:c.3258C>T	ENSP00000341115.5:p.His1086=
ENST00000452699.5:c.*17C>T	ENSP00000413307.1:n.*17C>T
ENST00000466561.1:n.1606C>T
ENST00000502418.1:c.978C>T	ENSP00000423065.1:p.His326=
NM_001141973.2:c.*17C>T	NP_001135445.1:n.*17C>T
NM_001141974.2:c.3258C>T	NP_001135446.1:p.His1086=
NM_022089.3:c.*17C>T	NP_071372.1:n.*17C>T
XM_005245809.1:c.3390C>T	XP_005245866.1:p.His1130=
XM_005245810.1:c.3387C>T	XP_005245867.1:p.His1129=
XM_005245811.1:c.3375C>T	XP_005245868.1:p.His1125=
XM_005245812.1:c.3363C>T	XP_005245869.1:p.His1121=
XM_005245813.1:c.3330C>T	XP_005245870.1:p.His1110=
XM_005245815.1:c.3273C>T	XP_005245872.1:p.His1091=
XM_006710512.1:c.3372C>T	XP_006710575.1:p.His1124=
XM_006710513.1:c.3348C>T	XP_006710576.1:p.His1116=
XM_011541128.1:c.3375C>T	XP_011539430.1:p.His1125=
XM_011541129.1:c.3183C>T	XP_011539431.1:p.His1061=
XM_017000844.1:c.*17C>T	XP_016856333.1:n.*17C>T
XM_017000845.1:c.*17C>T	XP_016856334.1:n.*17C>T
XM_017000846.1:c.*17C>T	XP_016856335.1:n.*17C>T
XM_017000847.1:c.*17C>T	XP_016856336.1:n.*17C>T
XM_017000848.1:c.*17C>T	XP_016856337.1:n.*17C>T
XM_017000849.1:c.*17C>T	XP_016856338.1:n.*17C>T
XM_017000850.1:c.*17C>T	XP_016856339.1:n.*17C>T
NM_022089.4:c.*17C>T MANE Select	NP_071372.1:n.*17C>T
NM_001141973.3:c.*17C>T	NP_001135445.1:n.*17C>T
NM_001141974.3:c.3258C>T	NP_001135446.1:p.His1086=