Canonical Allele Identifier: CA338254367

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1958487
• ClinVar RCV Id: RCV002696109
• dbSNP Id: rs1431644803
• MyVariant Identifiers: chr1:g.17322908T>C (hg19) ; chr1:g.16996413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996413T>C , CM000663.2:g.16996413T>C	GRCh38
NC_000001.10:g.17322908T>C , CM000663.1:g.17322908T>C	GRCh37
NC_000001.9:g.17195495T>C	NCBI36
NG_009054.1:g.20516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1279A>G MANE Select	ENSP00000327214.8:p.Lys427Glu
ENST00000326735.12:c.1279A>G	ENSP00000327214.8:p.Lys427Glu
ENST00000341676.9:c.1264A>G	ENSP00000341115.5:p.Lys422Glu
ENST00000452699.5:c.1264A>G	ENSP00000413307.1:p.Lys422Glu
ENST00000463860.5:n.887A>G
ENST00000502860.1:n.335-113A>G
ENST00000506174.5:c.421A>G	ENSP00000424393.1:p.Lys141Glu
ENST00000509392.1:n.282A>G
ENST00000617114.4:c.335-113A>G	ENSP00000478781.1:n.335-113A>G
NM_001141973.2:c.1264A>G	NP_001135445.1:p.Lys422Glu
NM_001141974.2:c.1264A>G	NP_001135446.1:p.Lys422Glu
NM_022089.3:c.1279A>G	NP_071372.1:p.Lys427Glu
XM_005245809.1:c.1279A>G	XP_005245866.1:p.Lys427Glu
XM_005245810.1:c.1276A>G	XP_005245867.1:p.Lys426Glu
XM_005245811.1:c.1264A>G	XP_005245868.1:p.Lys422Glu
XM_005245812.1:c.1252A>G	XP_005245869.1:p.Lys418Glu
XM_005245813.1:c.1279A>G	XP_005245870.1:p.Lys427Glu
XM_005245815.1:c.1279A>G	XP_005245872.1:p.Lys427Glu
XM_006710512.1:c.1261A>G	XP_006710575.1:p.Lys421Glu
XM_006710513.1:c.1237A>G	XP_006710576.1:p.Lys413Glu
XM_011541128.1:c.1279A>G	XP_011539430.1:p.Lys427Glu
XM_011541129.1:c.1279A>G	XP_011539431.1:p.Lys427Glu
XM_017000844.1:c.1279A>G	XP_016856333.1:p.Lys427Glu
XM_017000845.1:c.1261A>G	XP_016856334.1:p.Lys421Glu
XM_017000846.1:c.1237A>G	XP_016856335.1:p.Lys413Glu
XM_017000847.1:c.1249A>G	XP_016856336.1:p.Lys417Glu
XM_017000848.1:c.1279A>G	XP_016856337.1:p.Lys427Glu
XM_017000849.1:c.1264A>G	XP_016856338.1:p.Lys422Glu
XM_017000850.1:c.1279A>G	XP_016856339.1:p.Lys427Glu
NM_022089.4:c.1279A>G MANE Select	NP_071372.1:p.Lys427Glu
NM_001141973.3:c.1264A>G	NP_001135445.1:p.Lys422Glu
NM_001141974.3:c.1264A>G	NP_001135446.1:p.Lys422Glu