Canonical Allele Identifier: CA636778

Gene: ATP13A2

Linked Data

• dbSNP Id: rs752494943
• ExAC: 1:17316196 G / A
• gnomAD v2: 1-17316196-G-A
• gnomAD v4: 1-16989701-G-A
• MyVariant Identifiers: chr1:g.17316196G>A (hg19) ; chr1:g.16989701G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989701G>A , CM000663.2:g.16989701G>A	GRCh38
NC_000001.10:g.17316196G>A , CM000663.1:g.17316196G>A	GRCh37
NC_000001.9:g.17188783G>A	NCBI36
NG_009054.1:g.27228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2599C>T MANE Select	ENSP00000327214.8:p.Gln867Ter
ENST00000326735.12:c.2599C>T	ENSP00000327214.8:p.Gln867Ter
ENST00000341676.9:c.2467C>T	ENSP00000341115.5:p.Gln823Ter
ENST00000452699.5:c.2584C>T	ENSP00000413307.1:p.Gln862Ter
ENST00000466561.1:n.473C>T
ENST00000502418.1:c.187C>T	ENSP00000423065.1:p.Gln63Ter
NM_001141973.2:c.2584C>T	NP_001135445.1:p.Gln862Ter
NM_001141974.2:c.2467C>T	NP_001135446.1:p.Gln823Ter
NM_022089.3:c.2599C>T	NP_071372.1:p.Gln867Ter
XM_005245809.1:c.2599C>T	XP_005245866.1:p.Gln867Ter
XM_005245810.1:c.2596C>T	XP_005245867.1:p.Gln866Ter
XM_005245811.1:c.2584C>T	XP_005245868.1:p.Gln862Ter
XM_005245812.1:c.2572C>T	XP_005245869.1:p.Gln858Ter
XM_005245813.1:c.2539C>T	XP_005245870.1:p.Gln847Ter
XM_005245815.1:c.2482C>T	XP_005245872.1:p.Gln828Ter
XM_006710512.1:c.2581C>T	XP_006710575.1:p.Gln861Ter
XM_006710513.1:c.2557C>T	XP_006710576.1:p.Gln853Ter
XM_011541128.1:c.2584C>T	XP_011539430.1:p.Gln862Ter
XM_011541129.1:c.2392C>T	XP_011539431.1:p.Gln798Ter
XM_017000844.1:c.2584C>T	XP_016856333.1:p.Gln862Ter
XM_017000845.1:c.2581C>T	XP_016856334.1:p.Gln861Ter
XM_017000846.1:c.2557C>T	XP_016856335.1:p.Gln853Ter
XM_017000847.1:c.2554C>T	XP_016856336.1:p.Gln852Ter
XM_017000848.1:c.2482C>T	XP_016856337.1:p.Gln828Ter
XM_017000849.1:c.2467C>T	XP_016856338.1:p.Gln823Ter
XM_017000850.1:c.2392C>T	XP_016856339.1:p.Gln798Ter
NM_022089.4:c.2599C>T MANE Select	NP_071372.1:p.Gln867Ter
NM_001141973.3:c.2584C>T	NP_001135445.1:p.Gln862Ter
NM_001141974.3:c.2467C>T	NP_001135446.1:p.Gln823Ter