Canonical Allele Identifier: CA636777

Gene: ATP13A2

Linked Data

• dbSNP Id: rs767280251
• ExAC: 1:17316195 T / G
• gnomAD v2: 1-17316195-T-G
• MyVariant Identifiers: chr1:g.17316195T>G (hg19) ; chr1:g.16989700T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989700T>G , CM000663.2:g.16989700T>G	GRCh38
NC_000001.10:g.17316195T>G , CM000663.1:g.17316195T>G	GRCh37
NC_000001.9:g.17188782T>G	NCBI36
NG_009054.1:g.27229A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2600A>C MANE Select	ENSP00000327214.8:p.Gln867Pro
ENST00000326735.12:c.2600A>C	ENSP00000327214.8:p.Gln867Pro
ENST00000341676.9:c.2468A>C	ENSP00000341115.5:p.Gln823Pro
ENST00000452699.5:c.2585A>C	ENSP00000413307.1:p.Gln862Pro
ENST00000466561.1:n.474A>C
ENST00000502418.1:c.188A>C	ENSP00000423065.1:p.Gln63Pro
NM_001141973.2:c.2585A>C	NP_001135445.1:p.Gln862Pro
NM_001141974.2:c.2468A>C	NP_001135446.1:p.Gln823Pro
NM_022089.3:c.2600A>C	NP_071372.1:p.Gln867Pro
XM_005245809.1:c.2600A>C	XP_005245866.1:p.Gln867Pro
XM_005245810.1:c.2597A>C	XP_005245867.1:p.Gln866Pro
XM_005245811.1:c.2585A>C	XP_005245868.1:p.Gln862Pro
XM_005245812.1:c.2573A>C	XP_005245869.1:p.Gln858Pro
XM_005245813.1:c.2540A>C	XP_005245870.1:p.Gln847Pro
XM_005245815.1:c.2483A>C	XP_005245872.1:p.Gln828Pro
XM_006710512.1:c.2582A>C	XP_006710575.1:p.Gln861Pro
XM_006710513.1:c.2558A>C	XP_006710576.1:p.Gln853Pro
XM_011541128.1:c.2585A>C	XP_011539430.1:p.Gln862Pro
XM_011541129.1:c.2393A>C	XP_011539431.1:p.Gln798Pro
XM_017000844.1:c.2585A>C	XP_016856333.1:p.Gln862Pro
XM_017000845.1:c.2582A>C	XP_016856334.1:p.Gln861Pro
XM_017000846.1:c.2558A>C	XP_016856335.1:p.Gln853Pro
XM_017000847.1:c.2555A>C	XP_016856336.1:p.Gln852Pro
XM_017000848.1:c.2483A>C	XP_016856337.1:p.Gln828Pro
XM_017000849.1:c.2468A>C	XP_016856338.1:p.Gln823Pro
XM_017000850.1:c.2393A>C	XP_016856339.1:p.Gln798Pro
NM_022089.4:c.2600A>C MANE Select	NP_071372.1:p.Gln867Pro
NM_001141973.3:c.2585A>C	NP_001135445.1:p.Gln862Pro
NM_001141974.3:c.2468A>C	NP_001135446.1:p.Gln823Pro