Canonical Allele Identifier: CA408117823
Gene: PANK2 HGNC NCBI

Linked Data

dbSNP Id: rs1381797164
gnomAD v2: 20-3893238-G-C
gnomAD v3: 20-3912591-G-C
gnomAD v4: 20-3912591-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912591G>C , CM000682.2:g.3912591G>C GRCh38
NC_000020.10:g.3893238G>C , CM000682.1:g.3893238G>C GRCh37
NC_000020.9:g.3841238G>C NCBI36
NG_008131.3:g.28753G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000610179.7:c.1039G>C MANE Select ENSP00000477429.2:p.Asp347His
ENST00000316562.9:c.1369G>C ENSP00000313377.4:p.Asp457His
ENST00000336066.8:c.*380G>C ENSP00000477229.2:n.*380G>C
ENST00000610179.6:c.1039G>C ENSP00000477429.2:p.Asp347His
ENST00000643504.2:c.*669G>C ENSP00000495157.2:n.*669G>C
ENST00000646394.1:c.866G>C
ENST00000316562.8:c.1369G>C ENSP00000313377.4:p.Asp457His
ENST00000336066.7:c.*380G>C ENSP00000477229.1:n.*380G>C
ENST00000464452.1:n.604G>C
ENST00000495692.5:c.61G>C ENSP00000476745.1:p.Asp21His
ENST00000497424.5:c.496G>C ENSP00000417609.1:p.Asp166His
ENST00000610179.5:c.1000G>C ENSP00000477429.1:p.Asp334His
ENST00000621507.1:c.496G>C ENSP00000481523.1:p.Asp166His
NM_024960.4:c.496G>C NP_079236.3:p.Asp166His
NM_153638.2:c.1369G>C NP_705902.2:p.Asp457His
NM_153640.2:c.496G>C NP_705904.1:p.Asp166His
XM_005260835.2:c.754G>C XP_005260892.1:p.Asp252His
XM_005260836.3:c.496G>C XP_005260893.3:p.Asp166His
XM_006723631.1:c.496G>C XP_006723694.1:p.Asp166His
XM_011529364.1:c.1235+1761G>C XP_011527666.1:n.1235+1761G>C
NM_001324191.1:c.496G>C NP_001311120.1:p.Asp166His
NM_001324193.1:c.61G>C NP_001311122.1:p.Asp21His
NM_024960.5:c.496G>C NP_079236.3:p.Asp166His
NM_153638.3:c.1369G>C NP_705902.2:p.Asp457His
NM_153640.3:c.496G>C NP_705904.1:p.Asp166His
NR_136715.1:n.1393G>C
XM_005260835.3:c.754G>C XP_005260892.1:p.Asp252His
XM_005260836.4:c.496G>C XP_005260893.3:p.Asp166His
XM_011529364.3:c.1235+1761G>C XP_011527666.1:n.1235+1761G>C
XM_017028077.2:c.61G>C XP_016883566.1:p.Asp21His
XM_017028078.2:c.61G>C XP_016883567.1:p.Asp21His
XM_017028079.2:c.61G>C XP_016883568.1:p.Asp21His
XM_024452002.1:c.61G>C XP_024307770.1:p.Asp21His
XR_002958533.1:n.2157G>C
NM_001324191.2:c.496G>C NP_001311120.1:p.Asp166His
NM_001324193.2:c.61G>C NP_001311122.1:p.Asp21His
NM_024960.6:c.496G>C NP_079236.3:p.Asp166His
NR_136715.2:n.940G>C
NM_001386393.1:c.1039G>C MANE Select NP_001373322.1:p.Asp347His
NM_153638.4:c.1369G>C NP_705902.2:p.Asp457His
NM_153640.4:c.496G>C NP_705904.1:p.Asp166His