Canonical Allele Identifier: CA637190

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 590058
• ClinVar RCV Id: RCV000874591 ; RCV001097339 ; RCV002318240 ; RCV003222121
• dbSNP Id: rs536306337
• ExAC: 1:17322477 G / A
• gnomAD v2: 1-17322477-G-A
• gnomAD v3: 1-16995982-G-A
• gnomAD v4: 1-16995982-G-A
• MyVariant Identifiers: chr1:g.17322477G>A (hg19) ; chr1:g.16995982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995982G>A , CM000663.2:g.16995982G>A	GRCh38
NC_000001.10:g.17322477G>A , CM000663.1:g.17322477G>A	GRCh37
NC_000001.9:g.17195064G>A	NCBI36
NG_009054.1:g.20947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1536C>T MANE Select	ENSP00000327214.8:p.Phe512=
ENST00000326735.12:c.1536C>T	ENSP00000327214.8:p.Phe512=
ENST00000341676.9:c.1521C>T	ENSP00000341115.5:p.Phe507=
ENST00000452699.5:c.1521C>T	ENSP00000413307.1:p.Phe507=
ENST00000463860.5:n.1144C>T
ENST00000502860.1:n.564C>T
ENST00000503552.1:c.213C>T	ENSP00000421126.1:p.Phe71=
ENST00000617114.4:c.564C>T	ENSP00000478781.1:p.Phe188=
NM_001141973.2:c.1521C>T	NP_001135445.1:p.Phe507=
NM_001141974.2:c.1521C>T	NP_001135446.1:p.Phe507=
NM_022089.3:c.1536C>T	NP_071372.1:p.Phe512=
XM_005245809.1:c.1536C>T	XP_005245866.1:p.Phe512=
XM_005245810.1:c.1533C>T	XP_005245867.1:p.Phe511=
XM_005245811.1:c.1521C>T	XP_005245868.1:p.Phe507=
XM_005245812.1:c.1509C>T	XP_005245869.1:p.Phe503=
XM_005245813.1:c.1536C>T	XP_005245870.1:p.Phe512=
XM_005245815.1:c.1536C>T	XP_005245872.1:p.Phe512=
XM_006710512.1:c.1518C>T	XP_006710575.1:p.Phe506=
XM_006710513.1:c.1494C>T	XP_006710576.1:p.Phe498=
XM_011541128.1:c.1527+9C>T	XP_011539430.1:n.1527+9C>T
XM_011541129.1:c.1536C>T	XP_011539431.1:p.Phe512=
XM_017000844.1:c.1527+9C>T	XP_016856333.1:n.1527+9C>T
XM_017000845.1:c.1518C>T	XP_016856334.1:p.Phe506=
XM_017000846.1:c.1494C>T	XP_016856335.1:p.Phe498=
XM_017000847.1:c.1497+9C>T	XP_016856336.1:n.1497+9C>T
XM_017000848.1:c.1536C>T	XP_016856337.1:p.Phe512=
XM_017000849.1:c.1521C>T	XP_016856338.1:p.Phe507=
XM_017000850.1:c.1536C>T	XP_016856339.1:p.Phe512=
NM_022089.4:c.1536C>T MANE Select	NP_071372.1:p.Phe512=
NM_001141973.3:c.1521C>T	NP_001135445.1:p.Phe507=
NM_001141974.3:c.1521C>T	NP_001135446.1:p.Phe507=