Canonical Allele Identifier: CA338254852
Gene: ATP13A2 HGNC NCBI

Linked Data

gnomAD v4: 1-16996480-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996480T>G , CM000663.2:g.16996480T>G GRCh38
NC_000001.10:g.17322975T>G , CM000663.1:g.17322975T>G GRCh37
NC_000001.9:g.17195562T>G NCBI36
NG_009054.1:g.20449A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1212A>C MANE Select ENSP00000327214.8:p.Lys404Asn
ENST00000326735.12:c.1212A>C ENSP00000327214.8:p.Lys404Asn
ENST00000341676.9:c.1197A>C ENSP00000341115.5:p.Lys399Asn
ENST00000452699.5:c.1197A>C ENSP00000413307.1:p.Lys399Asn
ENST00000463860.5:n.820A>C
ENST00000502860.1:n.335-180A>C
ENST00000506174.5:c.356-2A>C ENSP00000424393.1:n.356-2A>C
ENST00000509392.1:n.215A>C
ENST00000617114.4:c.335-180A>C ENSP00000478781.1:n.335-180A>C
NM_001141973.2:c.1197A>C NP_001135445.1:p.Lys399Asn
NM_001141974.2:c.1197A>C NP_001135446.1:p.Lys399Asn
NM_022089.3:c.1212A>C NP_071372.1:p.Lys404Asn
XM_005245809.1:c.1212A>C XP_005245866.1:p.Lys404Asn
XM_005245810.1:c.1209A>C XP_005245867.1:p.Lys403Asn
XM_005245811.1:c.1197A>C XP_005245868.1:p.Lys399Asn
XM_005245812.1:c.1185A>C XP_005245869.1:p.Lys395Asn
XM_005245813.1:c.1212A>C XP_005245870.1:p.Lys404Asn
XM_005245815.1:c.1212A>C XP_005245872.1:p.Lys404Asn
XM_006710512.1:c.1194A>C XP_006710575.1:p.Lys398Asn
XM_006710513.1:c.1170A>C XP_006710576.1:p.Lys390Asn
XM_011541128.1:c.1212A>C XP_011539430.1:p.Lys404Asn
XM_011541129.1:c.1212A>C XP_011539431.1:p.Lys404Asn
XM_017000844.1:c.1212A>C XP_016856333.1:p.Lys404Asn
XM_017000845.1:c.1194A>C XP_016856334.1:p.Lys398Asn
XM_017000846.1:c.1170A>C XP_016856335.1:p.Lys390Asn
XM_017000847.1:c.1182A>C XP_016856336.1:p.Lys394Asn
XM_017000848.1:c.1212A>C XP_016856337.1:p.Lys404Asn
XM_017000849.1:c.1197A>C XP_016856338.1:p.Lys399Asn
XM_017000850.1:c.1212A>C XP_016856339.1:p.Lys404Asn
NM_022089.4:c.1212A>C MANE Select NP_071372.1:p.Lys404Asn
NM_001141973.3:c.1197A>C NP_001135445.1:p.Lys399Asn
NM_001141974.3:c.1197A>C NP_001135446.1:p.Lys399Asn