Canonical Allele Identifier: CA636567
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 876202
ClinVar RCV Id: RCV001100728
dbSNP Id: rs761031832
gnomAD v2: 1-17313285-C-T
gnomAD v3: 1-16986790-C-T
gnomAD v4: 1-16986790-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986790C>T , CM000663.2:g.16986790C>T GRCh38
NC_000001.10:g.17313285C>T , CM000663.1:g.17313285C>T GRCh37
NC_000001.9:g.17185872C>T NCBI36
NG_009054.1:g.30139G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.3235+15G>A MANE Select ENSP00000327214.8:n.3235+15G>A
ENST00000326735.12:c.3235+15G>A ENSP00000327214.8:n.3235+15G>A
ENST00000341676.9:c.3103+15G>A ENSP00000341115.5:n.3103+15G>A
ENST00000452699.5:c.3220+15G>A ENSP00000413307.1:n.3220+15G>A
ENST00000466561.1:n.1124G>A
ENST00000502418.1:c.823+15G>A ENSP00000423065.1:n.823+15G>A
NM_001141973.2:c.3220+15G>A NP_001135445.1:n.3220+15G>A
NM_001141974.2:c.3103+15G>A NP_001135446.1:n.3103+15G>A
NM_022089.3:c.3235+15G>A NP_071372.1:n.3235+15G>A
XM_005245809.1:c.3235+15G>A XP_005245866.1:n.3235+15G>A
XM_005245810.1:c.3232+15G>A XP_005245867.1:n.3232+15G>A
XM_005245811.1:c.3220+15G>A XP_005245868.1:n.3220+15G>A
XM_005245812.1:c.3208+15G>A XP_005245869.1:n.3208+15G>A
XM_005245813.1:c.3175+15G>A XP_005245870.1:n.3175+15G>A
XM_005245815.1:c.3118+15G>A XP_005245872.1:n.3118+15G>A
XM_006710512.1:c.3217+15G>A XP_006710575.1:n.3217+15G>A
XM_006710513.1:c.3193+15G>A XP_006710576.1:n.3193+15G>A
XM_011541128.1:c.3220+15G>A XP_011539430.1:n.3220+15G>A
XM_011541129.1:c.3028+15G>A XP_011539431.1:n.3028+15G>A
XM_017000844.1:c.3220+15G>A XP_016856333.1:n.3220+15G>A
XM_017000845.1:c.3217+15G>A XP_016856334.1:n.3217+15G>A
XM_017000846.1:c.3193+15G>A XP_016856335.1:n.3193+15G>A
XM_017000847.1:c.3190+15G>A XP_016856336.1:n.3190+15G>A
XM_017000848.1:c.3118+15G>A XP_016856337.1:n.3118+15G>A
XM_017000849.1:c.3103+15G>A XP_016856338.1:n.3103+15G>A
XM_017000850.1:c.3028+15G>A XP_016856339.1:n.3028+15G>A
NM_022089.4:c.3235+15G>A MANE Select NP_071372.1:n.3235+15G>A
NM_001141973.3:c.3220+15G>A NP_001135445.1:n.3220+15G>A
NM_001141974.3:c.3103+15G>A NP_001135446.1:n.3103+15G>A