Canonical Allele Identifier: CA338240434

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17316422A>C (hg19) ; chr1:g.16989927A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989927A>C , CM000663.2:g.16989927A>C	GRCh38
NC_000001.10:g.17316422A>C , CM000663.1:g.17316422A>C	GRCh37
NC_000001.9:g.17189009A>C	NCBI36
NG_009054.1:g.27002T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2489T>G MANE Select	ENSP00000327214.8:p.Phe830Cys
ENST00000326735.12:c.2489T>G	ENSP00000327214.8:p.Phe830Cys
ENST00000341676.9:c.2398-157T>G	ENSP00000341115.5:n.2398-157T>G
ENST00000452699.5:c.2474T>G	ENSP00000413307.1:p.Phe825Cys
ENST00000466561.1:n.363T>G
ENST00000502418.1:c.77T>G	ENSP00000423065.1:p.Phe26Cys
NM_001141973.2:c.2474T>G	NP_001135445.1:p.Phe825Cys
NM_001141974.2:c.2398-157T>G	NP_001135446.1:n.2398-157T>G
NM_022089.3:c.2489T>G	NP_071372.1:p.Phe830Cys
XM_005245809.1:c.2489T>G	XP_005245866.1:p.Phe830Cys
XM_005245810.1:c.2486T>G	XP_005245867.1:p.Phe829Cys
XM_005245811.1:c.2474T>G	XP_005245868.1:p.Phe825Cys
XM_005245812.1:c.2462T>G	XP_005245869.1:p.Phe821Cys
XM_005245813.1:c.2429T>G	XP_005245870.1:p.Phe810Cys
XM_005245815.1:c.2413-157T>G	XP_005245872.1:n.2413-157T>G
XM_006710512.1:c.2471T>G	XP_006710575.1:p.Phe824Cys
XM_006710513.1:c.2447T>G	XP_006710576.1:p.Phe816Cys
XM_011541128.1:c.2474T>G	XP_011539430.1:p.Phe825Cys
XM_011541129.1:c.2282T>G	XP_011539431.1:p.Phe761Cys
XM_017000844.1:c.2474T>G	XP_016856333.1:p.Phe825Cys
XM_017000845.1:c.2471T>G	XP_016856334.1:p.Phe824Cys
XM_017000846.1:c.2447T>G	XP_016856335.1:p.Phe816Cys
XM_017000847.1:c.2444T>G	XP_016856336.1:p.Phe815Cys
XM_017000848.1:c.2413-157T>G	XP_016856337.1:n.2413-157T>G
XM_017000849.1:c.2398-157T>G	XP_016856338.1:n.2398-157T>G
XM_017000850.1:c.2282T>G	XP_016856339.1:p.Phe761Cys
NM_022089.4:c.2489T>G MANE Select	NP_071372.1:p.Phe830Cys
NM_001141973.3:c.2474T>G	NP_001135445.1:p.Phe825Cys
NM_001141974.3:c.2398-157T>G	NP_001135446.1:n.2398-157T>G