Canonical Allele Identifier: CA10662051
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1270274
ClinVar RCV Id: RCV001686016
dbSNP Id: rs3738814

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17005181A>G , CM000663.2:g.17005181A>G GRCh38
NC_000001.10:g.17331676A>G , CM000663.1:g.17331676A>G GRCh37
NC_000001.9:g.17204263A>G NCBI36
NG_009054.1:g.11748T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.289-109T>C MANE Select ENSP00000327214.8:n.289-109T>C
ENST00000617114.5:n.308-109T>C ENSP00000478781.2:n.308-109T>C
ENST00000326735.12:c.289-109T>C ENSP00000327214.8:n.289-109T>C
ENST00000341676.9:c.289-109T>C ENSP00000341115.5:n.289-109T>C
ENST00000452699.5:c.289-109T>C ENSP00000413307.1:n.289-109T>C
ENST00000508222.5:n.23-109T>C
ENST00000509619.1:n.266-109T>C
ENST00000510069.5:n.215-109T>C
ENST00000617114.4:c.-558-109T>C ENSP00000478781.1:n.-558-109T>C
NM_001141973.2:c.289-109T>C NP_001135445.1:n.289-109T>C
NM_001141974.2:c.289-109T>C NP_001135446.1:n.289-109T>C
NM_022089.3:c.289-109T>C NP_071372.1:n.289-109T>C
XM_005245809.1:c.289-109T>C XP_005245866.1:n.289-109T>C
XM_005245810.1:c.289-109T>C XP_005245867.1:n.289-109T>C
XM_005245811.1:c.289-109T>C XP_005245868.1:n.289-109T>C
XM_005245812.1:c.289-109T>C XP_005245869.1:n.289-109T>C
XM_005245813.1:c.289-109T>C XP_005245870.1:n.289-109T>C
XM_005245815.1:c.289-109T>C XP_005245872.1:n.289-109T>C
XM_006710512.1:c.289-109T>C XP_006710575.1:n.289-109T>C
XM_006710513.1:c.289-109T>C XP_006710576.1:n.289-109T>C
XM_011541128.1:c.289-109T>C XP_011539430.1:n.289-109T>C
XM_011541129.1:c.289-109T>C XP_011539431.1:n.289-109T>C
XM_017000844.1:c.289-109T>C XP_016856333.1:n.289-109T>C
XM_017000845.1:c.289-109T>C XP_016856334.1:n.289-109T>C
XM_017000846.1:c.289-109T>C XP_016856335.1:n.289-109T>C
XM_017000847.1:c.289-109T>C XP_016856336.1:n.289-109T>C
XM_017000848.1:c.289-109T>C XP_016856337.1:n.289-109T>C
XM_017000849.1:c.289-109T>C XP_016856338.1:n.289-109T>C
XM_017000850.1:c.289-109T>C XP_016856339.1:n.289-109T>C
NM_022089.4:c.289-109T>C MANE Select NP_071372.1:n.289-109T>C
NM_001141973.3:c.289-109T>C NP_001135445.1:n.289-109T>C
NM_001141974.3:c.289-109T>C NP_001135446.1:n.289-109T>C