Canonical Allele Identifier: CA636540

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2078375
• ClinVar RCV Id: RCV002988600
• dbSNP Id: rs773379849
• ExAC: 1:17313124 G / T
• gnomAD v2: 1-17313124-G-T
• gnomAD v4: 1-16986629-G-T
• MyVariant Identifiers: chr1:g.17313124G>T (hg19) ; chr1:g.16986629G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986629G>T , CM000663.2:g.16986629G>T	GRCh38
NC_000001.10:g.17313124G>T , CM000663.1:g.17313124G>T	GRCh37
NC_000001.9:g.17185711G>T	NCBI36
NG_009054.1:g.30300C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3239C>A MANE Select	ENSP00000327214.8:p.Pro1080His
ENST00000326735.12:c.3239C>A	ENSP00000327214.8:p.Pro1080His
ENST00000341676.9:c.3103+176C>A	ENSP00000341115.5:n.3103+176C>A
ENST00000452699.5:c.3224C>A	ENSP00000413307.1:p.Pro1075His
ENST00000466561.1:n.1285C>A
ENST00000502418.1:c.823+176C>A	ENSP00000423065.1:n.823+176C>A
NM_001141973.2:c.3224C>A	NP_001135445.1:p.Pro1075His
NM_001141974.2:c.3103+176C>A	NP_001135446.1:n.3103+176C>A
NM_022089.3:c.3239C>A	NP_071372.1:p.Pro1080His
XM_005245809.1:c.3235+176C>A	XP_005245866.1:n.3235+176C>A
XM_005245810.1:c.3232+176C>A	XP_005245867.1:n.3232+176C>A
XM_005245811.1:c.3220+176C>A	XP_005245868.1:n.3220+176C>A
XM_005245812.1:c.3208+176C>A	XP_005245869.1:n.3208+176C>A
XM_005245813.1:c.3175+176C>A	XP_005245870.1:n.3175+176C>A
XM_005245815.1:c.3118+176C>A	XP_005245872.1:n.3118+176C>A
XM_006710512.1:c.3217+176C>A	XP_006710575.1:n.3217+176C>A
XM_006710513.1:c.3193+176C>A	XP_006710576.1:n.3193+176C>A
XM_011541128.1:c.3220+176C>A	XP_011539430.1:n.3220+176C>A
XM_011541129.1:c.3028+176C>A	XP_011539431.1:n.3028+176C>A
XM_017000844.1:c.3224C>A	XP_016856333.1:p.Pro1075His
XM_017000845.1:c.3221C>A	XP_016856334.1:p.Pro1074His
XM_017000846.1:c.3197C>A	XP_016856335.1:p.Pro1066His
XM_017000847.1:c.3194C>A	XP_016856336.1:p.Pro1065His
XM_017000848.1:c.3122C>A	XP_016856337.1:p.Pro1041His
XM_017000849.1:c.3107C>A	XP_016856338.1:p.Pro1036His
XM_017000850.1:c.3032C>A	XP_016856339.1:p.Pro1011His
NM_022089.4:c.3239C>A MANE Select	NP_071372.1:p.Pro1080His
NM_001141973.3:c.3224C>A	NP_001135445.1:p.Pro1075His
NM_001141974.3:c.3103+176C>A	NP_001135446.1:n.3103+176C>A