Canonical Allele Identifier: CA338239759

Gene: ATP13A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989752C>T , CM000663.2:g.16989752C>T	GRCh38
NC_000001.10:g.17316247C>T , CM000663.1:g.17316247C>T	GRCh37
NC_000001.9:g.17188834C>T	NCBI36
NG_009054.1:g.27177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2548G>A MANE Select	ENSP00000327214.8:p.Val850Ile
ENST00000326735.12:c.2548G>A	ENSP00000327214.8:p.Val850Ile
ENST00000341676.9:c.2416G>A	ENSP00000341115.5:p.Val806Ile
ENST00000452699.5:c.2533G>A	ENSP00000413307.1:p.Val845Ile
ENST00000466561.1:n.422G>A
ENST00000502418.1:c.136G>A	ENSP00000423065.1:p.Val46Ile
NM_001141973.2:c.2533G>A	NP_001135445.1:p.Val845Ile
NM_001141974.2:c.2416G>A	NP_001135446.1:p.Val806Ile
NM_022089.3:c.2548G>A	NP_071372.1:p.Val850Ile
XM_005245809.1:c.2548G>A	XP_005245866.1:p.Val850Ile
XM_005245810.1:c.2545G>A	XP_005245867.1:p.Val849Ile
XM_005245811.1:c.2533G>A	XP_005245868.1:p.Val845Ile
XM_005245812.1:c.2521G>A	XP_005245869.1:p.Val841Ile
XM_005245813.1:c.2488G>A	XP_005245870.1:p.Val830Ile
XM_005245815.1:c.2431G>A	XP_005245872.1:p.Val811Ile
XM_006710512.1:c.2530G>A	XP_006710575.1:p.Val844Ile
XM_006710513.1:c.2506G>A	XP_006710576.1:p.Val836Ile
XM_011541128.1:c.2533G>A	XP_011539430.1:p.Val845Ile
XM_011541129.1:c.2341G>A	XP_011539431.1:p.Val781Ile
XM_017000844.1:c.2533G>A	XP_016856333.1:p.Val845Ile
XM_017000845.1:c.2530G>A	XP_016856334.1:p.Val844Ile
XM_017000846.1:c.2506G>A	XP_016856335.1:p.Val836Ile
XM_017000847.1:c.2503G>A	XP_016856336.1:p.Val835Ile
XM_017000848.1:c.2431G>A	XP_016856337.1:p.Val811Ile
XM_017000849.1:c.2416G>A	XP_016856338.1:p.Val806Ile
XM_017000850.1:c.2341G>A	XP_016856339.1:p.Val781Ile
NM_022089.4:c.2548G>A MANE Select	NP_071372.1:p.Val850Ile
NM_001141973.3:c.2533G>A	NP_001135445.1:p.Val845Ile
NM_001141974.3:c.2416G>A	NP_001135446.1:p.Val806Ile