Canonical Allele Identifier: CA18625785
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2141347
ClinVar RCV Id: RCV003056913
dbSNP Id: rs766447629
gnomAD v2: 1-17313400-G-A
gnomAD v3: 1-16986905-G-A
gnomAD v4: 1-16986905-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986905G>A , CM000663.2:g.16986905G>A GRCh38
NC_000001.10:g.17313400G>A , CM000663.1:g.17313400G>A GRCh37
NC_000001.9:g.17185987G>A NCBI36
NG_009054.1:g.30024C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3135C>T MANE Select ENSP00000327214.8:p.Tyr1045=
ENST00000326735.12:c.3135C>T ENSP00000327214.8:p.Tyr1045=
ENST00000341676.9:c.3003C>T ENSP00000341115.5:p.Tyr1001=
ENST00000452699.5:c.3120C>T ENSP00000413307.1:p.Tyr1040=
ENST00000466561.1:n.1009C>T
ENST00000502418.1:c.723C>T ENSP00000423065.1:p.Tyr241=
NM_001141973.2:c.3120C>T NP_001135445.1:p.Tyr1040=
NM_001141974.2:c.3003C>T NP_001135446.1:p.Tyr1001=
NM_022089.3:c.3135C>T NP_071372.1:p.Tyr1045=
XM_005245809.1:c.3135C>T XP_005245866.1:p.Tyr1045=
XM_005245810.1:c.3132C>T XP_005245867.1:p.Tyr1044=
XM_005245811.1:c.3120C>T XP_005245868.1:p.Tyr1040=
XM_005245812.1:c.3108C>T XP_005245869.1:p.Tyr1036=
XM_005245813.1:c.3075C>T XP_005245870.1:p.Tyr1025=
XM_005245815.1:c.3018C>T XP_005245872.1:p.Tyr1006=
XM_006710512.1:c.3117C>T XP_006710575.1:p.Tyr1039=
XM_006710513.1:c.3093C>T XP_006710576.1:p.Tyr1031=
XM_011541128.1:c.3120C>T XP_011539430.1:p.Tyr1040=
XM_011541129.1:c.2928C>T XP_011539431.1:p.Tyr976=
XM_017000844.1:c.3120C>T XP_016856333.1:p.Tyr1040=
XM_017000845.1:c.3117C>T XP_016856334.1:p.Tyr1039=
XM_017000846.1:c.3093C>T XP_016856335.1:p.Tyr1031=
XM_017000847.1:c.3090C>T XP_016856336.1:p.Tyr1030=
XM_017000848.1:c.3018C>T XP_016856337.1:p.Tyr1006=
XM_017000849.1:c.3003C>T XP_016856338.1:p.Tyr1001=
XM_017000850.1:c.2928C>T XP_016856339.1:p.Tyr976=
NM_022089.4:c.3135C>T MANE Select NP_071372.1:p.Tyr1045=
NM_001141973.3:c.3120C>T NP_001135445.1:p.Tyr1040=
NM_001141974.3:c.3003C>T NP_001135446.1:p.Tyr1001=