Canonical Allele Identifier: CA18625642

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2044385
• ClinVar RCV Id: RCV002903650 ; RCV003274071
• dbSNP Id: rs764988645
• gnomAD v2: 1-17313329-G-C
• gnomAD v3: 1-16986834-G-C
• gnomAD v4: 1-16986834-G-C
• MyVariant Identifiers: chr1:g.17313329G>C (hg19) ; chr1:g.16986834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986834G>C , CM000663.2:g.16986834G>C	GRCh38
NC_000001.10:g.17313329G>C , CM000663.1:g.17313329G>C	GRCh37
NC_000001.9:g.17185916G>C	NCBI36
NG_009054.1:g.30095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3206C>G MANE Select	ENSP00000327214.8:p.Ala1069Gly
ENST00000326735.12:c.3206C>G	ENSP00000327214.8:p.Ala1069Gly
ENST00000341676.9:c.3074C>G	ENSP00000341115.5:p.Ala1025Gly
ENST00000452699.5:c.3191C>G	ENSP00000413307.1:p.Ala1064Gly
ENST00000466561.1:n.1080C>G
ENST00000502418.1:c.794C>G	ENSP00000423065.1:p.Ala265Gly
NM_001141973.2:c.3191C>G	NP_001135445.1:p.Ala1064Gly
NM_001141974.2:c.3074C>G	NP_001135446.1:p.Ala1025Gly
NM_022089.3:c.3206C>G	NP_071372.1:p.Ala1069Gly
XM_005245809.1:c.3206C>G	XP_005245866.1:p.Ala1069Gly
XM_005245810.1:c.3203C>G	XP_005245867.1:p.Ala1068Gly
XM_005245811.1:c.3191C>G	XP_005245868.1:p.Ala1064Gly
XM_005245812.1:c.3179C>G	XP_005245869.1:p.Ala1060Gly
XM_005245813.1:c.3146C>G	XP_005245870.1:p.Ala1049Gly
XM_005245815.1:c.3089C>G	XP_005245872.1:p.Ala1030Gly
XM_006710512.1:c.3188C>G	XP_006710575.1:p.Ala1063Gly
XM_006710513.1:c.3164C>G	XP_006710576.1:p.Ala1055Gly
XM_011541128.1:c.3191C>G	XP_011539430.1:p.Ala1064Gly
XM_011541129.1:c.2999C>G	XP_011539431.1:p.Ala1000Gly
XM_017000844.1:c.3191C>G	XP_016856333.1:p.Ala1064Gly
XM_017000845.1:c.3188C>G	XP_016856334.1:p.Ala1063Gly
XM_017000846.1:c.3164C>G	XP_016856335.1:p.Ala1055Gly
XM_017000847.1:c.3161C>G	XP_016856336.1:p.Ala1054Gly
XM_017000848.1:c.3089C>G	XP_016856337.1:p.Ala1030Gly
XM_017000849.1:c.3074C>G	XP_016856338.1:p.Ala1025Gly
XM_017000850.1:c.2999C>G	XP_016856339.1:p.Ala1000Gly
NM_022089.4:c.3206C>G MANE Select	NP_071372.1:p.Ala1069Gly
NM_001141973.3:c.3191C>G	NP_001135445.1:p.Ala1064Gly
NM_001141974.3:c.3074C>G	NP_001135446.1:p.Ala1025Gly