Canonical Allele Identifier: CA338231522

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312669G>T (hg19) ; chr1:g.16986174G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986174G>T , CM000663.2:g.16986174G>T	GRCh38
NC_000001.10:g.17312669G>T , CM000663.1:g.17312669G>T	GRCh37
NC_000001.9:g.17185256G>T	NCBI36
NG_009054.1:g.30755C>A
NG_029688.1:g.413C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*47C>A MANE Select	ENSP00000327214.8:n.*47C>A
ENST00000326735.12:c.*47C>A	ENSP00000327214.8:n.*47C>A
ENST00000341676.9:c.3288C>A	ENSP00000341115.5:p.Ser1096Arg
ENST00000452699.5:c.*47C>A	ENSP00000413307.1:n.*47C>A
ENST00000466561.1:n.1636C>A
ENST00000502418.1:c.1008C>A	ENSP00000423065.1:p.Ser336Arg
NM_001141973.2:c.*47C>A	NP_001135445.1:n.*47C>A
NM_001141974.2:c.3288C>A	NP_001135446.1:p.Ser1096Arg
NM_022089.3:c.*47C>A	NP_071372.1:n.*47C>A
XM_005245809.1:c.3420C>A	XP_005245866.1:p.Ser1140Arg
XM_005245810.1:c.3417C>A	XP_005245867.1:p.Ser1139Arg
XM_005245811.1:c.3405C>A	XP_005245868.1:p.Ser1135Arg
XM_005245812.1:c.3393C>A	XP_005245869.1:p.Ser1131Arg
XM_005245813.1:c.3360C>A	XP_005245870.1:p.Ser1120Arg
XM_005245815.1:c.3303C>A	XP_005245872.1:p.Ser1101Arg
XM_006710512.1:c.3402C>A	XP_006710575.1:p.Ser1134Arg
XM_006710513.1:c.3378C>A	XP_006710576.1:p.Ser1126Arg
XM_011541128.1:c.3405C>A	XP_011539430.1:p.Ser1135Arg
XM_011541129.1:c.3213C>A	XP_011539431.1:p.Ser1071Arg
XM_017000844.1:c.*47C>A	XP_016856333.1:n.*47C>A
XM_017000845.1:c.*47C>A	XP_016856334.1:n.*47C>A
XM_017000846.1:c.*47C>A	XP_016856335.1:n.*47C>A
XM_017000847.1:c.*47C>A	XP_016856336.1:n.*47C>A
XM_017000848.1:c.*47C>A	XP_016856337.1:n.*47C>A
XM_017000849.1:c.*47C>A	XP_016856338.1:n.*47C>A
XM_017000850.1:c.*47C>A	XP_016856339.1:n.*47C>A
NM_022089.4:c.*47C>A MANE Select	NP_071372.1:n.*47C>A
NM_001141973.3:c.*47C>A	NP_001135445.1:n.*47C>A
NM_001141974.3:c.3288C>A	NP_001135446.1:p.Ser1096Arg