Canonical Allele Identifier: CA253211
Gene: PANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4550
dbSNP Id: rs137852961
gnomAD v2: 20-3888734-C-T
gnomAD v3: 20-3908087-C-T
gnomAD v4: 20-3908087-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3908087C>T , CM000682.2:g.3908087C>T GRCh38
NC_000020.10:g.3888734C>T , CM000682.1:g.3888734C>T GRCh37
NC_000020.9:g.3836734C>T NCBI36
NG_008131.3:g.24249C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000610179.7:c.460C>T MANE Select ENSP00000477429.2:p.Arg154Trp
ENST00000316562.9:c.790C>T ENSP00000313377.4:p.Arg264Trp
ENST00000336066.8:c.460C>T ENSP00000477229.2:p.Arg154Trp
ENST00000610179.6:c.460C>T ENSP00000477429.2:p.Arg154Trp
ENST00000643504.2:c.*233C>T ENSP00000495157.2:n.*233C>T
ENST00000646394.1:c.287C>T
ENST00000316562.8:c.790C>T ENSP00000313377.4:p.Arg264Trp
ENST00000336066.7:c.421C>T ENSP00000477229.1:p.Arg141Trp
ENST00000471830.1:n.334C>T
ENST00000495692.5:c.-376C>T ENSP00000476745.1:n.-376C>T
ENST00000497424.5:c.-84C>T ENSP00000417609.1:n.-84C>T
ENST00000610179.5:c.421C>T ENSP00000477429.1:p.Arg141Trp
ENST00000621507.1:c.-84C>T ENSP00000481523.1:n.-84C>T
NM_024960.4:c.-84C>T NP_079236.3:n.-84C>T
NM_153638.2:c.790C>T NP_705902.2:p.Arg264Trp
NM_153640.2:c.-84C>T NP_705904.1:n.-84C>T
XM_005260835.2:c.175C>T XP_005260892.1:p.Arg59Trp
XM_005260836.3:c.-84C>T XP_005260893.3:n.-84C>T
XM_006723631.1:c.-84C>T XP_006723694.1:n.-84C>T
XM_011529364.1:c.790C>T XP_011527666.1:p.Arg264Trp
XM_011529365.1:c.790C>T XP_011527667.1:p.Arg264Trp
NM_001324191.1:c.-84C>T NP_001311120.1:n.-84C>T
NM_001324192.1:c.790C>T NP_001311121.1:p.Arg264Trp
NM_001324193.1:c.-376C>T NP_001311122.1:n.-376C>T
NM_024960.5:c.-84C>T NP_079236.3:n.-84C>T
NM_153638.3:c.790C>T NP_705902.2:p.Arg264Trp
NM_153640.3:c.-84C>T NP_705904.1:n.-84C>T
NR_136715.1:n.957C>T
XM_005260835.3:c.175C>T XP_005260892.1:p.Arg59Trp
XM_005260836.4:c.-84C>T XP_005260893.3:n.-84C>T
XM_011529364.3:c.790C>T XP_011527666.1:p.Arg264Trp
XM_011529365.2:c.790C>T XP_011527667.1:p.Arg264Trp
XM_017028077.2:c.-376C>T XP_016883566.1:n.-376C>T
XM_017028078.2:c.-376C>T XP_016883567.1:n.-376C>T
XM_017028079.2:c.-376C>T XP_016883568.1:n.-376C>T
XM_024452002.1:c.-376C>T XP_024307770.1:n.-376C>T
XR_002958533.1:n.951C>T
NM_001324191.2:c.-84C>T NP_001311120.1:n.-84C>T
NM_001324193.2:c.-376C>T NP_001311122.1:n.-376C>T
NM_024960.6:c.-84C>T NP_079236.3:n.-84C>T
NR_136715.2:n.504C>T
NM_001386393.1:c.460C>T MANE Select NP_001373322.1:p.Arg154Trp
NM_153638.4:c.790C>T NP_705902.2:p.Arg264Trp
NM_153640.4:c.-84C>T NP_705904.1:n.-84C>T