Canonical Allele Identifier: CA253220
Gene: PANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4558
ClinVar RCV Id: RCV000004819
dbSNP Id: rs28939088
gnomAD v4: 20-3912532-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912532T>C , CM000682.2:g.3912532T>C GRCh38
NC_000020.10:g.3893179T>C , CM000682.1:g.3893179T>C GRCh37
NC_000020.9:g.3841179T>C NCBI36
NG_008131.3:g.28694T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000610179.7:c.980T>C MANE Select ENSP00000477429.2:p.Met327Thr
ENST00000316562.9:c.1310T>C ENSP00000313377.4:p.Met437Thr
ENST00000336066.8:c.*321T>C ENSP00000477229.2:n.*321T>C
ENST00000610179.6:c.980T>C ENSP00000477429.2:p.Met327Thr
ENST00000643504.2:c.*610T>C ENSP00000495157.2:n.*610T>C
ENST00000646394.1:c.807T>C
ENST00000316562.8:c.1310T>C ENSP00000313377.4:p.Met437Thr
ENST00000336066.7:c.*321T>C ENSP00000477229.1:n.*321T>C
ENST00000464452.1:n.545T>C
ENST00000495692.5:c.2T>C ENSP00000476745.1:p.Met1Thr
ENST00000497424.5:c.437T>C ENSP00000417609.1:p.Met146Thr
ENST00000610179.5:c.941T>C ENSP00000477429.1:p.Met314Thr
ENST00000621507.1:c.437T>C ENSP00000481523.1:p.Met146Thr
NM_024960.4:c.437T>C NP_079236.3:p.Met146Thr
NM_153638.2:c.1310T>C NP_705902.2:p.Met437Thr
NM_153640.2:c.437T>C NP_705904.1:p.Met146Thr
XM_005260835.2:c.695T>C XP_005260892.1:p.Met232Thr
XM_005260836.3:c.437T>C XP_005260893.3:p.Met146Thr
XM_006723631.1:c.437T>C XP_006723694.1:p.Met146Thr
XM_011529364.1:c.1235+1702T>C XP_011527666.1:n.1235+1702T>C
NM_001324191.1:c.437T>C NP_001311120.1:p.Met146Thr
NM_001324193.1:c.2T>C NP_001311122.1:p.Met1Thr
NM_024960.5:c.437T>C NP_079236.3:p.Met146Thr
NM_153638.3:c.1310T>C NP_705902.2:p.Met437Thr
NM_153640.3:c.437T>C NP_705904.1:p.Met146Thr
NR_136715.1:n.1334T>C
XM_005260835.3:c.695T>C XP_005260892.1:p.Met232Thr
XM_005260836.4:c.437T>C XP_005260893.3:p.Met146Thr
XM_011529364.3:c.1235+1702T>C XP_011527666.1:n.1235+1702T>C
XM_017028077.2:c.2T>C XP_016883566.1:p.Met1Thr
XM_017028078.2:c.2T>C XP_016883567.1:p.Met1Thr
XM_017028079.2:c.2T>C XP_016883568.1:p.Met1Thr
XM_024452002.1:c.2T>C XP_024307770.1:p.Met1Thr
XR_002958533.1:n.2098T>C
NM_001324191.2:c.437T>C NP_001311120.1:p.Met146Thr
NM_001324193.2:c.2T>C NP_001311122.1:p.Met1Thr
NM_024960.6:c.437T>C NP_079236.3:p.Met146Thr
NR_136715.2:n.881T>C
NM_001386393.1:c.980T>C MANE Select NP_001373322.1:p.Met327Thr
NM_153638.4:c.1310T>C NP_705902.2:p.Met437Thr
NM_153640.4:c.437T>C NP_705904.1:p.Met146Thr