Canonical Allele Identifier: CA338232986
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986552G>C , CM000663.2:g.16986552G>C GRCh38
NC_000001.10:g.17313047G>C , CM000663.1:g.17313047G>C GRCh37
NC_000001.9:g.17185634G>C NCBI36
NG_009054.1:g.30377C>G
NG_029688.1:g.35C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3316C>G MANE Select ENSP00000327214.8:p.Leu1106Val
ENST00000326735.12:c.3316C>G ENSP00000327214.8:p.Leu1106Val
ENST00000341676.9:c.3104-194C>G ENSP00000341115.5:n.3104-194C>G
ENST00000452699.5:c.3301C>G ENSP00000413307.1:p.Leu1101Val
ENST00000466561.1:n.1362C>G
ENST00000502418.1:c.824-194C>G ENSP00000423065.1:n.824-194C>G
NM_001141973.2:c.3301C>G NP_001135445.1:p.Leu1101Val
NM_001141974.2:c.3104-194C>G NP_001135446.1:n.3104-194C>G
NM_022089.3:c.3316C>G NP_071372.1:p.Leu1106Val
XM_005245809.1:c.3236-194C>G XP_005245866.1:n.3236-194C>G
XM_005245810.1:c.3233-194C>G XP_005245867.1:n.3233-194C>G
XM_005245811.1:c.3221-194C>G XP_005245868.1:n.3221-194C>G
XM_005245812.1:c.3209-194C>G XP_005245869.1:n.3209-194C>G
XM_005245813.1:c.3176-194C>G XP_005245870.1:n.3176-194C>G
XM_005245815.1:c.3119-194C>G XP_005245872.1:n.3119-194C>G
XM_006710512.1:c.3218-194C>G XP_006710575.1:n.3218-194C>G
XM_006710513.1:c.3194-194C>G XP_006710576.1:n.3194-194C>G
XM_011541128.1:c.3221-194C>G XP_011539430.1:n.3221-194C>G
XM_011541129.1:c.3029-194C>G XP_011539431.1:n.3029-194C>G
XM_017000844.1:c.3301C>G XP_016856333.1:p.Leu1101Val
XM_017000845.1:c.3298C>G XP_016856334.1:p.Leu1100Val
XM_017000846.1:c.3274C>G XP_016856335.1:p.Leu1092Val
XM_017000847.1:c.3271C>G XP_016856336.1:p.Leu1091Val
XM_017000848.1:c.3199C>G XP_016856337.1:p.Leu1067Val
XM_017000849.1:c.3184C>G XP_016856338.1:p.Leu1062Val
XM_017000850.1:c.3109C>G XP_016856339.1:p.Leu1037Val
NM_022089.4:c.3316C>G MANE Select NP_071372.1:p.Leu1106Val
NM_001141973.3:c.3301C>G NP_001135445.1:p.Leu1101Val
NM_001141974.3:c.3104-194C>G NP_001135446.1:n.3104-194C>G