Canonical Allele Identifier: CA636575

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1420936
• ClinVar RCV Id: RCV001943679 ; RCV002557872
• dbSNP Id: rs747907490
• ExAC: 1:17313317 C / T
• gnomAD v2: 1-17313317-C-T
• gnomAD v3: 1-16986822-C-T
• gnomAD v4: 1-16986822-C-T
• MyVariant Identifiers: chr1:g.17313317C>T (hg19) ; chr1:g.16986822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986822C>T , CM000663.2:g.16986822C>T	GRCh38
NC_000001.10:g.17313317C>T , CM000663.1:g.17313317C>T	GRCh37
NC_000001.9:g.17185904C>T	NCBI36
NG_009054.1:g.30107G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3218G>A MANE Select	ENSP00000327214.8:p.Arg1073Gln
ENST00000326735.12:c.3218G>A	ENSP00000327214.8:p.Arg1073Gln
ENST00000341676.9:c.3086G>A	ENSP00000341115.5:p.Arg1029Gln
ENST00000452699.5:c.3203G>A	ENSP00000413307.1:p.Arg1068Gln
ENST00000466561.1:n.1092G>A
ENST00000502418.1:c.806G>A	ENSP00000423065.1:p.Arg269Gln
NM_001141973.2:c.3203G>A	NP_001135445.1:p.Arg1068Gln
NM_001141974.2:c.3086G>A	NP_001135446.1:p.Arg1029Gln
NM_022089.3:c.3218G>A	NP_071372.1:p.Arg1073Gln
XM_005245809.1:c.3218G>A	XP_005245866.1:p.Arg1073Gln
XM_005245810.1:c.3215G>A	XP_005245867.1:p.Arg1072Gln
XM_005245811.1:c.3203G>A	XP_005245868.1:p.Arg1068Gln
XM_005245812.1:c.3191G>A	XP_005245869.1:p.Arg1064Gln
XM_005245813.1:c.3158G>A	XP_005245870.1:p.Arg1053Gln
XM_005245815.1:c.3101G>A	XP_005245872.1:p.Arg1034Gln
XM_006710512.1:c.3200G>A	XP_006710575.1:p.Arg1067Gln
XM_006710513.1:c.3176G>A	XP_006710576.1:p.Arg1059Gln
XM_011541128.1:c.3203G>A	XP_011539430.1:p.Arg1068Gln
XM_011541129.1:c.3011G>A	XP_011539431.1:p.Arg1004Gln
XM_017000844.1:c.3203G>A	XP_016856333.1:p.Arg1068Gln
XM_017000845.1:c.3200G>A	XP_016856334.1:p.Arg1067Gln
XM_017000846.1:c.3176G>A	XP_016856335.1:p.Arg1059Gln
XM_017000847.1:c.3173G>A	XP_016856336.1:p.Arg1058Gln
XM_017000848.1:c.3101G>A	XP_016856337.1:p.Arg1034Gln
XM_017000849.1:c.3086G>A	XP_016856338.1:p.Arg1029Gln
XM_017000850.1:c.3011G>A	XP_016856339.1:p.Arg1004Gln
NM_022089.4:c.3218G>A MANE Select	NP_071372.1:p.Arg1073Gln
NM_001141973.3:c.3203G>A	NP_001135445.1:p.Arg1068Gln
NM_001141974.3:c.3086G>A	NP_001135446.1:p.Arg1029Gln