Canonical Allele Identifier: CA2346795681
Community Standard Title: NM_001386393.1(PANK2):c.460C= (p.Arg154=)
Gene: PANK2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001386393.1:c.460C= MANE Select NP_001373322.1:p.Arg154=
ENST00000610179.7:c.460C= MANE Select ENSP00000477429.2:p.Arg154=
NM_001324191.1:c.-84C= NP_001311120.1:n.-84C=
NM_001324191.2:c.-84C= NP_001311120.1:n.-84C=
NM_001324192.1:c.790C= NP_001311121.1:p.Arg264=
NM_001324193.1:c.-376C= NP_001311122.1:n.-376C=
NM_001324193.2:c.-376C= NP_001311122.1:n.-376C=
NM_024960.4:c.-84C= NP_079236.3:n.-84C=
NM_024960.5:c.-84C= NP_079236.3:n.-84C=
NM_024960.6:c.-84C= NP_079236.3:n.-84C=
NM_153638.2:c.790C= NP_705902.2:p.Arg264=
NM_153638.3:c.790C= NP_705902.2:p.Arg264=
NM_153638.4:c.790C= NP_705902.2:p.Arg264=
NM_153640.2:c.-84C= NP_705904.1:n.-84C=
NM_153640.3:c.-84C= NP_705904.1:n.-84C=
NM_153640.4:c.-84C= NP_705904.1:n.-84C=
NR_136715.1:n.957C=
NR_136715.2:n.504C=
ENST00000316562.8:c.790C= ENSP00000313377.4:p.Arg264=
ENST00000316562.9:c.790C= ENSP00000313377.4:p.Arg264=
ENST00000336066.7:c.421C= ENSP00000477229.1:p.Arg141=
ENST00000336066.8:c.460C= ENSP00000477229.2:p.Arg154=
ENST00000471830.1:n.334C=
ENST00000495692.5:c.-376C= ENSP00000476745.1:n.-376C=
ENST00000497424.5:c.-84C= ENSP00000417609.1:n.-84C=
ENST00000610179.5:c.421C= ENSP00000477429.1:p.Arg141=
ENST00000610179.6:c.460C= ENSP00000477429.2:p.Arg154=
ENST00000621507.1:c.-84C= ENSP00000481523.1:n.-84C=
ENST00000643504.2:c.*233C= ENSP00000495157.2:n.*233C=
ENST00000646394.1:c.287C=
XM_005260835.2:c.175C= XP_005260892.1:p.Arg59=
XM_005260835.3:c.175C= XP_005260892.1:p.Arg59=
XM_005260836.3:c.-84C= XP_005260893.3:n.-84C=
XM_005260836.4:c.-84C= XP_005260893.3:n.-84C=
XM_006723631.1:c.-84C= XP_006723694.1:n.-84C=
XM_011529364.1:c.790C= XP_011527666.1:p.Arg264=
XM_011529364.3:c.790C= XP_011527666.1:p.Arg264=
XM_011529365.1:c.790C= XP_011527667.1:p.Arg264=
XM_011529365.2:c.790C= XP_011527667.1:p.Arg264=
XM_017028077.2:c.-376C= XP_016883566.1:n.-376C=
XM_017028078.2:c.-376C= XP_016883567.1:n.-376C=
XM_017028079.2:c.-376C= XP_016883568.1:n.-376C=
XM_024452002.1:c.-376C= XP_024307770.1:n.-376C=
XR_002958533.1:n.951C=