Canonical Allele Identifier: CA338254603
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996440T>G , CM000663.2:g.16996440T>G GRCh38
NC_000001.10:g.17322935T>G , CM000663.1:g.17322935T>G GRCh37
NC_000001.9:g.17195522T>G NCBI36
NG_009054.1:g.20489A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1252A>C MANE Select ENSP00000327214.8:p.Asn418His
ENST00000326735.12:c.1252A>C ENSP00000327214.8:p.Asn418His
ENST00000341676.9:c.1237A>C ENSP00000341115.5:p.Asn413His
ENST00000452699.5:c.1237A>C ENSP00000413307.1:p.Asn413His
ENST00000463860.5:n.860A>C
ENST00000502860.1:n.335-140A>C
ENST00000506174.5:c.394A>C ENSP00000424393.1:p.Asn132His
ENST00000509392.1:n.255A>C
ENST00000617114.4:c.335-140A>C ENSP00000478781.1:n.335-140A>C
NM_001141973.2:c.1237A>C NP_001135445.1:p.Asn413His
NM_001141974.2:c.1237A>C NP_001135446.1:p.Asn413His
NM_022089.3:c.1252A>C NP_071372.1:p.Asn418His
XM_005245809.1:c.1252A>C XP_005245866.1:p.Asn418His
XM_005245810.1:c.1249A>C XP_005245867.1:p.Asn417His
XM_005245811.1:c.1237A>C XP_005245868.1:p.Asn413His
XM_005245812.1:c.1225A>C XP_005245869.1:p.Asn409His
XM_005245813.1:c.1252A>C XP_005245870.1:p.Asn418His
XM_005245815.1:c.1252A>C XP_005245872.1:p.Asn418His
XM_006710512.1:c.1234A>C XP_006710575.1:p.Asn412His
XM_006710513.1:c.1210A>C XP_006710576.1:p.Asn404His
XM_011541128.1:c.1252A>C XP_011539430.1:p.Asn418His
XM_011541129.1:c.1252A>C XP_011539431.1:p.Asn418His
XM_017000844.1:c.1252A>C XP_016856333.1:p.Asn418His
XM_017000845.1:c.1234A>C XP_016856334.1:p.Asn412His
XM_017000846.1:c.1210A>C XP_016856335.1:p.Asn404His
XM_017000847.1:c.1222A>C XP_016856336.1:p.Asn408His
XM_017000848.1:c.1252A>C XP_016856337.1:p.Asn418His
XM_017000849.1:c.1237A>C XP_016856338.1:p.Asn413His
XM_017000850.1:c.1252A>C XP_016856339.1:p.Asn418His
NM_022089.4:c.1252A>C MANE Select NP_071372.1:p.Asn418His
NM_001141973.3:c.1237A>C NP_001135445.1:p.Asn413His
NM_001141974.3:c.1237A>C NP_001135446.1:p.Asn413His