Canonical Allele Identifier: CA10716743
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1238030
ClinVar RCV Id: RCV001637578
dbSNP Id: rs4920608

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16992792C>T , CM000663.2:g.16992792C>T GRCh38
NC_000001.10:g.17319287C>T , CM000663.1:g.17319287C>T GRCh37
NC_000001.9:g.17191874C>T NCBI36
NG_009054.1:g.24137G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.1750-211G>A MANE Select ENSP00000327214.8:n.1750-211G>A
ENST00000326735.12:c.1750-211G>A ENSP00000327214.8:n.1750-211G>A
ENST00000341676.9:c.1735-211G>A ENSP00000341115.5:n.1735-211G>A
ENST00000452699.5:c.1735-211G>A ENSP00000413307.1:n.1735-211G>A
ENST00000503552.1:n.220-211G>A ENSP00000421126.1:n.220-211G>A
NM_001141973.2:c.1735-211G>A NP_001135445.1:n.1735-211G>A
NM_001141974.2:c.1735-211G>A NP_001135446.1:n.1735-211G>A
NM_022089.3:c.1750-211G>A NP_071372.1:n.1750-211G>A
XM_005245809.1:c.1750-211G>A XP_005245866.1:n.1750-211G>A
XM_005245810.1:c.1747-211G>A XP_005245867.1:n.1747-211G>A
XM_005245811.1:c.1735-211G>A XP_005245868.1:n.1735-211G>A
XM_005245812.1:c.1723-211G>A XP_005245869.1:n.1723-211G>A
XM_005245813.1:c.1750-211G>A XP_005245870.1:n.1750-211G>A
XM_005245815.1:c.1750-211G>A XP_005245872.1:n.1750-211G>A
XM_006710512.1:c.1732-211G>A XP_006710575.1:n.1732-211G>A
XM_006710513.1:c.1708-211G>A XP_006710576.1:n.1708-211G>A
XM_011541128.1:c.1735-211G>A XP_011539430.1:n.1735-211G>A
XM_011541129.1:c.1543-211G>A XP_011539431.1:n.1543-211G>A
XM_017000844.1:c.1735-211G>A XP_016856333.1:n.1735-211G>A
XM_017000845.1:c.1732-211G>A XP_016856334.1:n.1732-211G>A
XM_017000846.1:c.1708-211G>A XP_016856335.1:n.1708-211G>A
XM_017000847.1:c.1705-211G>A XP_016856336.1:n.1705-211G>A
XM_017000848.1:c.1750-211G>A XP_016856337.1:n.1750-211G>A
XM_017000849.1:c.1735-211G>A XP_016856338.1:n.1735-211G>A
XM_017000850.1:c.1543-211G>A XP_016856339.1:n.1543-211G>A
NM_022089.4:c.1750-211G>A MANE Select NP_071372.1:n.1750-211G>A
NM_001141973.3:c.1735-211G>A NP_001135445.1:n.1735-211G>A
NM_001141974.3:c.1735-211G>A NP_001135446.1:n.1735-211G>A