Canonical Allele Identifier: CA264798
Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 66098
ClinVar RCV Id: RCV000056335
dbSNP Id: rs587777053

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16989739A>C , CM000663.2:g.16989739A>C GRCh38
NC_000001.10:g.17316234A>C , CM000663.1:g.17316234A>C GRCh37
NC_000001.9:g.17188821A>C NCBI36
NG_009054.1:g.27190T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326735.13:c.2561T>G MANE Select ENSP00000327214.8:p.Met854Arg
ENST00000326735.12:c.2561T>G ENSP00000327214.8:p.Met854Arg
ENST00000341676.9:c.2429T>G ENSP00000341115.5:p.Met810Arg
ENST00000452699.5:c.2546T>G ENSP00000413307.1:p.Met849Arg
ENST00000466561.1:n.435T>G
ENST00000502418.1:n.149T>G ENSP00000423065.1:p.Met50Arg
NM_001141973.2:c.2546T>G NP_001135445.1:p.Met849Arg
NM_001141974.2:c.2429T>G NP_001135446.1:p.Met810Arg
NM_022089.3:c.2561T>G NP_071372.1:p.Met854Arg
XM_005245809.1:c.2561T>G XP_005245866.1:p.Met854Arg
XM_005245810.1:c.2558T>G XP_005245867.1:p.Met853Arg
XM_005245811.1:c.2546T>G XP_005245868.1:p.Met849Arg
XM_005245812.1:c.2534T>G XP_005245869.1:p.Met845Arg
XM_005245813.1:c.2501T>G XP_005245870.1:p.Met834Arg
XM_005245815.1:c.2444T>G XP_005245872.1:p.Met815Arg
XM_006710512.1:c.2543T>G XP_006710575.1:p.Met848Arg
XM_006710513.1:c.2519T>G XP_006710576.1:p.Met840Arg
XM_011541128.1:c.2546T>G XP_011539430.1:p.Met849Arg
XM_011541129.1:c.2354T>G XP_011539431.1:p.Met785Arg
XM_017000844.1:c.2546T>G XP_016856333.1:p.Met849Arg
XM_017000845.1:c.2543T>G XP_016856334.1:p.Met848Arg
XM_017000846.1:c.2519T>G XP_016856335.1:p.Met840Arg
XM_017000847.1:c.2516T>G XP_016856336.1:p.Met839Arg
XM_017000848.1:c.2444T>G XP_016856337.1:p.Met815Arg
XM_017000849.1:c.2429T>G XP_016856338.1:p.Met810Arg
XM_017000850.1:c.2354T>G XP_016856339.1:p.Met785Arg
NM_022089.4:c.2561T>G MANE Select NP_071372.1:p.Met854Arg
NM_001141973.3:c.2546T>G NP_001135445.1:p.Met849Arg
NM_001141974.3:c.2429T>G NP_001135446.1:p.Met810Arg