Canonical Allele Identifier: CA338254714
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498321
ClinVar RCV Id: RCV000593522
dbSNP Id: rs1553168739
gnomAD v4: 1-16996455-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996455G>A , CM000663.2:g.16996455G>A GRCh38
NC_000001.10:g.17322950G>A , CM000663.1:g.17322950G>A GRCh37
NC_000001.9:g.17195537G>A NCBI36
NG_009054.1:g.20474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1237C>T MANE Select ENSP00000327214.8:p.His413Tyr
ENST00000326735.12:c.1237C>T ENSP00000327214.8:p.His413Tyr
ENST00000341676.9:c.1222C>T ENSP00000341115.5:p.His408Tyr
ENST00000452699.5:c.1222C>T ENSP00000413307.1:p.His408Tyr
ENST00000463860.5:n.845C>T
ENST00000502860.1:n.335-155C>T
ENST00000506174.5:c.379C>T ENSP00000424393.1:p.His127Tyr
ENST00000509392.1:n.240C>T
ENST00000617114.4:c.335-155C>T ENSP00000478781.1:n.335-155C>T
NM_001141973.2:c.1222C>T NP_001135445.1:p.His408Tyr
NM_001141974.2:c.1222C>T NP_001135446.1:p.His408Tyr
NM_022089.3:c.1237C>T NP_071372.1:p.His413Tyr
XM_005245809.1:c.1237C>T XP_005245866.1:p.His413Tyr
XM_005245810.1:c.1234C>T XP_005245867.1:p.His412Tyr
XM_005245811.1:c.1222C>T XP_005245868.1:p.His408Tyr
XM_005245812.1:c.1210C>T XP_005245869.1:p.His404Tyr
XM_005245813.1:c.1237C>T XP_005245870.1:p.His413Tyr
XM_005245815.1:c.1237C>T XP_005245872.1:p.His413Tyr
XM_006710512.1:c.1219C>T XP_006710575.1:p.His407Tyr
XM_006710513.1:c.1195C>T XP_006710576.1:p.His399Tyr
XM_011541128.1:c.1237C>T XP_011539430.1:p.His413Tyr
XM_011541129.1:c.1237C>T XP_011539431.1:p.His413Tyr
XM_017000844.1:c.1237C>T XP_016856333.1:p.His413Tyr
XM_017000845.1:c.1219C>T XP_016856334.1:p.His407Tyr
XM_017000846.1:c.1195C>T XP_016856335.1:p.His399Tyr
XM_017000847.1:c.1207C>T XP_016856336.1:p.His403Tyr
XM_017000848.1:c.1237C>T XP_016856337.1:p.His413Tyr
XM_017000849.1:c.1222C>T XP_016856338.1:p.His408Tyr
XM_017000850.1:c.1237C>T XP_016856339.1:p.His413Tyr
NM_022089.4:c.1237C>T MANE Select NP_071372.1:p.His413Tyr
NM_001141973.3:c.1222C>T NP_001135445.1:p.His408Tyr
NM_001141974.3:c.1222C>T NP_001135446.1:p.His408Tyr