Canonical Allele Identifier: CA338232194

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1304941036
• gnomAD v2: 1-17312764-C-G
• gnomAD v4: 1-16986269-C-G
• MyVariant Identifiers: chr1:g.17312764C>G (hg19) ; chr1:g.16986269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986269C>G , CM000663.2:g.16986269C>G	GRCh38
NC_000001.10:g.17312764C>G , CM000663.1:g.17312764C>G	GRCh37
NC_000001.9:g.17185351C>G	NCBI36
NG_009054.1:g.30660G>C
NG_029688.1:g.318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3495G>C MANE Select	ENSP00000327214.8:p.Glu1165Asp
ENST00000326735.12:c.3495G>C	ENSP00000327214.8:p.Glu1165Asp
ENST00000341676.9:c.3193G>C	ENSP00000341115.5:p.Ala1065Pro
ENST00000452699.5:c.3480G>C	ENSP00000413307.1:p.Glu1160Asp
ENST00000466561.1:n.1541G>C
ENST00000502418.1:c.913G>C	ENSP00000423065.1:p.Ala305Pro
NM_001141973.2:c.3480G>C	NP_001135445.1:p.Glu1160Asp
NM_001141974.2:c.3193G>C	NP_001135446.1:p.Ala1065Pro
NM_022089.3:c.3495G>C	NP_071372.1:p.Glu1165Asp
XM_005245809.1:c.3325G>C	XP_005245866.1:p.Ala1109Pro
XM_005245810.1:c.3322G>C	XP_005245867.1:p.Ala1108Pro
XM_005245811.1:c.3310G>C	XP_005245868.1:p.Ala1104Pro
XM_005245812.1:c.3298G>C	XP_005245869.1:p.Ala1100Pro
XM_005245813.1:c.3265G>C	XP_005245870.1:p.Ala1089Pro
XM_005245815.1:c.3208G>C	XP_005245872.1:p.Ala1070Pro
XM_006710512.1:c.3307G>C	XP_006710575.1:p.Ala1103Pro
XM_006710513.1:c.3283G>C	XP_006710576.1:p.Ala1095Pro
XM_011541128.1:c.3310G>C	XP_011539430.1:p.Ala1104Pro
XM_011541129.1:c.3118G>C	XP_011539431.1:p.Ala1040Pro
XM_017000844.1:c.3480G>C	XP_016856333.1:p.Glu1160Asp
XM_017000845.1:c.3477G>C	XP_016856334.1:p.Glu1159Asp
XM_017000846.1:c.3453G>C	XP_016856335.1:p.Glu1151Asp
XM_017000847.1:c.3450G>C	XP_016856336.1:p.Glu1150Asp
XM_017000848.1:c.3378G>C	XP_016856337.1:p.Glu1126Asp
XM_017000849.1:c.3363G>C	XP_016856338.1:p.Glu1121Asp
XM_017000850.1:c.3288G>C	XP_016856339.1:p.Glu1096Asp
NM_022089.4:c.3495G>C MANE Select	NP_071372.1:p.Glu1165Asp
NM_001141973.3:c.3480G>C	NP_001135445.1:p.Glu1160Asp
NM_001141974.3:c.3193G>C	NP_001135446.1:p.Ala1065Pro