Canonical Allele Identifier: CA637194

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2369451
• ClinVar RCV Id: RCV002981647
• dbSNP Id: rs759299413
• ExAC: 1:17322514 C / T
• gnomAD v2: 1-17322514-C-T
• gnomAD v4: 1-16996019-C-T
• MyVariant Identifiers: chr1:g.17322514C>T (hg19) ; chr1:g.16996019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996019C>T , CM000663.2:g.16996019C>T	GRCh38
NC_000001.10:g.17322514C>T , CM000663.1:g.17322514C>T	GRCh37
NC_000001.9:g.17195101C>T	NCBI36
NG_009054.1:g.20910G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.1499G>A MANE Select	ENSP00000327214.8:p.Arg500His
ENST00000326735.12:c.1499G>A	ENSP00000327214.8:p.Arg500His
ENST00000341676.9:c.1484G>A	ENSP00000341115.5:p.Arg495His
ENST00000452699.5:c.1484G>A	ENSP00000413307.1:p.Arg495His
ENST00000463860.5:n.1107G>A
ENST00000502860.1:n.527G>A
ENST00000503552.1:c.176G>A	ENSP00000421126.1:p.Arg59His
ENST00000617114.4:c.527G>A	ENSP00000478781.1:p.Arg176His
NM_001141973.2:c.1484G>A	NP_001135445.1:p.Arg495His
NM_001141974.2:c.1484G>A	NP_001135446.1:p.Arg495His
NM_022089.3:c.1499G>A	NP_071372.1:p.Arg500His
XM_005245809.1:c.1499G>A	XP_005245866.1:p.Arg500His
XM_005245810.1:c.1496G>A	XP_005245867.1:p.Arg499His
XM_005245811.1:c.1484G>A	XP_005245868.1:p.Arg495His
XM_005245812.1:c.1472G>A	XP_005245869.1:p.Arg491His
XM_005245813.1:c.1499G>A	XP_005245870.1:p.Arg500His
XM_005245815.1:c.1499G>A	XP_005245872.1:p.Arg500His
XM_006710512.1:c.1481G>A	XP_006710575.1:p.Arg494His
XM_006710513.1:c.1457G>A	XP_006710576.1:p.Arg486His
XM_011541128.1:c.1499G>A	XP_011539430.1:p.Arg500His
XM_011541129.1:c.1499G>A	XP_011539431.1:p.Arg500His
XM_017000844.1:c.1499G>A	XP_016856333.1:p.Arg500His
XM_017000845.1:c.1481G>A	XP_016856334.1:p.Arg494His
XM_017000846.1:c.1457G>A	XP_016856335.1:p.Arg486His
XM_017000847.1:c.1469G>A	XP_016856336.1:p.Arg490His
XM_017000848.1:c.1499G>A	XP_016856337.1:p.Arg500His
XM_017000849.1:c.1484G>A	XP_016856338.1:p.Arg495His
XM_017000850.1:c.1499G>A	XP_016856339.1:p.Arg500His
NM_022089.4:c.1499G>A MANE Select	NP_071372.1:p.Arg500His
NM_001141973.3:c.1484G>A	NP_001135445.1:p.Arg495His
NM_001141974.3:c.1484G>A	NP_001135446.1:p.Arg495His