Canonical Allele Identifier: CA637649

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 664804
• ClinVar RCV Id: RCV000822972 ; RCV001766749 ; RCV002535966
• dbSNP Id: rs145031260
• ExAC: 1:17331233 T / A
• gnomAD v2: 1-17331233-T-A
• gnomAD v3: 1-17004738-T-A
• gnomAD v4: 1-17004738-T-A
• MyVariant Identifiers: chr1:g.17331233T>A (hg19) ; chr1:g.17004738T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17004738T>A , CM000663.2:g.17004738T>A	GRCh38
NC_000001.10:g.17331233T>A , CM000663.1:g.17331233T>A	GRCh37
NC_000001.9:g.17203820T>A	NCBI36
NG_009054.1:g.12191A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.431A>T MANE Select	ENSP00000327214.8:p.Asp144Val
ENST00000326735.12:c.431A>T	ENSP00000327214.8:p.Asp144Val
ENST00000341676.9:c.431A>T	ENSP00000341115.5:p.Asp144Val
ENST00000452699.5:c.431A>T	ENSP00000413307.1:p.Asp144Val
ENST00000508222.5:c.165A>T
ENST00000509619.1:c.408A>T
ENST00000510069.5:c.357A>T
ENST00000511957.5:c.143A>T	ENSP00000427241.1:p.Asp48Val
ENST00000617114.4:c.-416A>T	ENSP00000478781.1:n.-416A>T
NM_001141973.2:c.431A>T	NP_001135445.1:p.Asp144Val
NM_001141974.2:c.431A>T	NP_001135446.1:p.Asp144Val
NM_022089.3:c.431A>T	NP_071372.1:p.Asp144Val
XM_005245809.1:c.431A>T	XP_005245866.1:p.Asp144Val
XM_005245810.1:c.431A>T	XP_005245867.1:p.Asp144Val
XM_005245811.1:c.431A>T	XP_005245868.1:p.Asp144Val
XM_005245812.1:c.431A>T	XP_005245869.1:p.Asp144Val
XM_005245813.1:c.431A>T	XP_005245870.1:p.Asp144Val
XM_005245815.1:c.431A>T	XP_005245872.1:p.Asp144Val
XM_006710512.1:c.431A>T	XP_006710575.1:p.Asp144Val
XM_006710513.1:c.431A>T	XP_006710576.1:p.Asp144Val
XM_011541128.1:c.431A>T	XP_011539430.1:p.Asp144Val
XM_011541129.1:c.431A>T	XP_011539431.1:p.Asp144Val
XM_017000844.1:c.431A>T	XP_016856333.1:p.Asp144Val
XM_017000845.1:c.431A>T	XP_016856334.1:p.Asp144Val
XM_017000846.1:c.431A>T	XP_016856335.1:p.Asp144Val
XM_017000847.1:c.431A>T	XP_016856336.1:p.Asp144Val
XM_017000848.1:c.431A>T	XP_016856337.1:p.Asp144Val
XM_017000849.1:c.431A>T	XP_016856338.1:p.Asp144Val
XM_017000850.1:c.431A>T	XP_016856339.1:p.Asp144Val
NM_022089.4:c.431A>T MANE Select	NP_071372.1:p.Asp144Val
NM_001141973.3:c.431A>T	NP_001135445.1:p.Asp144Val
NM_001141974.3:c.431A>T	NP_001135446.1:p.Asp144Val