Canonical Allele Identifier: CA636782

Gene: ATP13A2

Linked Data

• dbSNP Id: rs774420241
• ExAC: 1:17316231 G / T
• gnomAD v2: 1-17316231-G-T
• gnomAD v4: 1-16989736-G-T
• MyVariant Identifiers: chr1:g.17316231G>T (hg19) ; chr1:g.16989736G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989736G>T , CM000663.2:g.16989736G>T	GRCh38
NC_000001.10:g.17316231G>T , CM000663.1:g.17316231G>T	GRCh37
NC_000001.9:g.17188818G>T	NCBI36
NG_009054.1:g.27193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2564C>A MANE Select	ENSP00000327214.8:p.Ala855Asp
ENST00000326735.12:c.2564C>A	ENSP00000327214.8:p.Ala855Asp
ENST00000341676.9:c.2432C>A	ENSP00000341115.5:p.Ala811Asp
ENST00000452699.5:c.2549C>A	ENSP00000413307.1:p.Ala850Asp
ENST00000466561.1:n.438C>A
ENST00000502418.1:c.152C>A	ENSP00000423065.1:p.Ala51Asp
NM_001141973.2:c.2549C>A	NP_001135445.1:p.Ala850Asp
NM_001141974.2:c.2432C>A	NP_001135446.1:p.Ala811Asp
NM_022089.3:c.2564C>A	NP_071372.1:p.Ala855Asp
XM_005245809.1:c.2564C>A	XP_005245866.1:p.Ala855Asp
XM_005245810.1:c.2561C>A	XP_005245867.1:p.Ala854Asp
XM_005245811.1:c.2549C>A	XP_005245868.1:p.Ala850Asp
XM_005245812.1:c.2537C>A	XP_005245869.1:p.Ala846Asp
XM_005245813.1:c.2504C>A	XP_005245870.1:p.Ala835Asp
XM_005245815.1:c.2447C>A	XP_005245872.1:p.Ala816Asp
XM_006710512.1:c.2546C>A	XP_006710575.1:p.Ala849Asp
XM_006710513.1:c.2522C>A	XP_006710576.1:p.Ala841Asp
XM_011541128.1:c.2549C>A	XP_011539430.1:p.Ala850Asp
XM_011541129.1:c.2357C>A	XP_011539431.1:p.Ala786Asp
XM_017000844.1:c.2549C>A	XP_016856333.1:p.Ala850Asp
XM_017000845.1:c.2546C>A	XP_016856334.1:p.Ala849Asp
XM_017000846.1:c.2522C>A	XP_016856335.1:p.Ala841Asp
XM_017000847.1:c.2519C>A	XP_016856336.1:p.Ala840Asp
XM_017000848.1:c.2447C>A	XP_016856337.1:p.Ala816Asp
XM_017000849.1:c.2432C>A	XP_016856338.1:p.Ala811Asp
XM_017000850.1:c.2357C>A	XP_016856339.1:p.Ala786Asp
NM_022089.4:c.2564C>A MANE Select	NP_071372.1:p.Ala855Asp
NM_001141973.3:c.2549C>A	NP_001135445.1:p.Ala850Asp
NM_001141974.3:c.2432C>A	NP_001135446.1:p.Ala811Asp