Canonical Allele Identifier: CA338239721

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17316243A>T (hg19) ; chr1:g.16989748A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989748A>T , CM000663.2:g.16989748A>T	GRCh38
NC_000001.10:g.17316243A>T , CM000663.1:g.17316243A>T	GRCh37
NC_000001.9:g.17188830A>T	NCBI36
NG_009054.1:g.27181T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2552T>A MANE Select	ENSP00000327214.8:p.Phe851Tyr
ENST00000326735.12:c.2552T>A	ENSP00000327214.8:p.Phe851Tyr
ENST00000341676.9:c.2420T>A	ENSP00000341115.5:p.Phe807Tyr
ENST00000452699.5:c.2537T>A	ENSP00000413307.1:p.Phe846Tyr
ENST00000466561.1:n.426T>A
ENST00000502418.1:c.140T>A	ENSP00000423065.1:p.Phe47Tyr
NM_001141973.2:c.2537T>A	NP_001135445.1:p.Phe846Tyr
NM_001141974.2:c.2420T>A	NP_001135446.1:p.Phe807Tyr
NM_022089.3:c.2552T>A	NP_071372.1:p.Phe851Tyr
XM_005245809.1:c.2552T>A	XP_005245866.1:p.Phe851Tyr
XM_005245810.1:c.2549T>A	XP_005245867.1:p.Phe850Tyr
XM_005245811.1:c.2537T>A	XP_005245868.1:p.Phe846Tyr
XM_005245812.1:c.2525T>A	XP_005245869.1:p.Phe842Tyr
XM_005245813.1:c.2492T>A	XP_005245870.1:p.Phe831Tyr
XM_005245815.1:c.2435T>A	XP_005245872.1:p.Phe812Tyr
XM_006710512.1:c.2534T>A	XP_006710575.1:p.Phe845Tyr
XM_006710513.1:c.2510T>A	XP_006710576.1:p.Phe837Tyr
XM_011541128.1:c.2537T>A	XP_011539430.1:p.Phe846Tyr
XM_011541129.1:c.2345T>A	XP_011539431.1:p.Phe782Tyr
XM_017000844.1:c.2537T>A	XP_016856333.1:p.Phe846Tyr
XM_017000845.1:c.2534T>A	XP_016856334.1:p.Phe845Tyr
XM_017000846.1:c.2510T>A	XP_016856335.1:p.Phe837Tyr
XM_017000847.1:c.2507T>A	XP_016856336.1:p.Phe836Tyr
XM_017000848.1:c.2435T>A	XP_016856337.1:p.Phe812Tyr
XM_017000849.1:c.2420T>A	XP_016856338.1:p.Phe807Tyr
XM_017000850.1:c.2345T>A	XP_016856339.1:p.Phe782Tyr
NM_022089.4:c.2552T>A MANE Select	NP_071372.1:p.Phe851Tyr
NM_001141973.3:c.2537T>A	NP_001135445.1:p.Phe846Tyr
NM_001141974.3:c.2420T>A	NP_001135446.1:p.Phe807Tyr