Canonical Allele Identifier: CA637263

Gene: ATP13A2

Linked Data

• dbSNP Id: rs761071319
• ExAC: 1:17322787 C / T
• gnomAD v2: 1-17322787-C-T
• gnomAD v3: 1-16996292-C-T
• gnomAD v4: 1-16996292-C-T
• MyVariant Identifiers: chr1:g.17322787C>T (hg19) ; chr1:g.16996292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996292C>T , CM000663.2:g.16996292C>T	GRCh38
NC_000001.10:g.17322787C>T , CM000663.1:g.17322787C>T	GRCh37
NC_000001.9:g.17195374C>T	NCBI36
NG_009054.1:g.20637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1315G>A MANE Select	ENSP00000327214.8:p.Gly439Ser
ENST00000326735.12:c.1315G>A	ENSP00000327214.8:p.Gly439Ser
ENST00000341676.9:c.1300G>A	ENSP00000341115.5:p.Gly434Ser
ENST00000452699.5:c.1300G>A	ENSP00000413307.1:p.Gly434Ser
ENST00000463860.5:n.923G>A
ENST00000502860.1:n.343G>A
ENST00000506174.5:c.457G>A	ENSP00000424393.1:p.Gly153Ser
ENST00000509392.1:n.403G>A
ENST00000617114.4:c.343G>A	ENSP00000478781.1:p.Gly115Ser
NM_001141973.2:c.1300G>A	NP_001135445.1:p.Gly434Ser
NM_001141974.2:c.1300G>A	NP_001135446.1:p.Gly434Ser
NM_022089.3:c.1315G>A	NP_071372.1:p.Gly439Ser
XM_005245809.1:c.1315G>A	XP_005245866.1:p.Gly439Ser
XM_005245810.1:c.1312G>A	XP_005245867.1:p.Gly438Ser
XM_005245811.1:c.1300G>A	XP_005245868.1:p.Gly434Ser
XM_005245812.1:c.1288G>A	XP_005245869.1:p.Gly430Ser
XM_005245813.1:c.1315G>A	XP_005245870.1:p.Gly439Ser
XM_005245815.1:c.1315G>A	XP_005245872.1:p.Gly439Ser
XM_006710512.1:c.1297G>A	XP_006710575.1:p.Gly433Ser
XM_006710513.1:c.1273G>A	XP_006710576.1:p.Gly425Ser
XM_011541128.1:c.1315G>A	XP_011539430.1:p.Gly439Ser
XM_011541129.1:c.1315G>A	XP_011539431.1:p.Gly439Ser
XM_017000844.1:c.1315G>A	XP_016856333.1:p.Gly439Ser
XM_017000845.1:c.1297G>A	XP_016856334.1:p.Gly433Ser
XM_017000846.1:c.1273G>A	XP_016856335.1:p.Gly425Ser
XM_017000847.1:c.1285G>A	XP_016856336.1:p.Gly429Ser
XM_017000848.1:c.1315G>A	XP_016856337.1:p.Gly439Ser
XM_017000849.1:c.1300G>A	XP_016856338.1:p.Gly434Ser
XM_017000850.1:c.1315G>A	XP_016856339.1:p.Gly439Ser
NM_022089.4:c.1315G>A MANE Select	NP_071372.1:p.Gly439Ser
NM_001141973.3:c.1300G>A	NP_001135445.1:p.Gly434Ser
NM_001141974.3:c.1300G>A	NP_001135446.1:p.Gly434Ser