Canonical Allele Identifier: CA2346796949
Community Standard Title: NM_001386393.1(PANK2):c.739C= (p.Arg247=)
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3910664C= , CM000682.2:g.3910664C= GRCh38
NC_000020.10:g.3891311C= , CM000682.1:g.3891311C= GRCh37
NC_000020.9:g.3839311C= NCBI36
NG_008131.3:g.26826C=

Transcript Alleles

HGVS Amino-acid Change
NM_001386393.1:c.739C= MANE Select NP_001373322.1:p.Arg247=
ENST00000610179.7:c.739C= MANE Select ENSP00000477429.2:p.Arg247=
NM_001324191.1:c.196C= NP_001311120.1:p.Arg66=
NM_001324191.2:c.196C= NP_001311120.1:p.Arg66=
NM_001324193.1:c.-240C= NP_001311122.1:n.-240C=
NM_001324193.2:c.-240C= NP_001311122.1:n.-240C=
NM_024960.4:c.196C= NP_079236.3:p.Arg66=
NM_024960.5:c.196C= NP_079236.3:p.Arg66=
NM_024960.6:c.196C= NP_079236.3:p.Arg66=
NM_153638.2:c.1069C= NP_705902.2:p.Arg357=
NM_153638.3:c.1069C= NP_705902.2:p.Arg357=
NM_153638.4:c.1069C= NP_705902.2:p.Arg357=
NM_153640.2:c.196C= NP_705904.1:p.Arg66=
NM_153640.3:c.196C= NP_705904.1:p.Arg66=
NM_153640.4:c.196C= NP_705904.1:p.Arg66=
NR_136715.1:n.1093C=
NR_136715.2:n.640C=
ENST00000316562.8:c.1069C= ENSP00000313377.4:p.Arg357=
ENST00000316562.9:c.1069C= ENSP00000313377.4:p.Arg357=
ENST00000336066.7:c.*80C= ENSP00000477229.1:n.*80C=
ENST00000336066.8:c.*80C= ENSP00000477229.2:n.*80C=
ENST00000464452.1:n.304C=
ENST00000471830.1:n.470C=
ENST00000495692.5:c.-240C= ENSP00000476745.1:n.-240C=
ENST00000497424.5:c.196C= ENSP00000417609.1:p.Arg66=
ENST00000610179.5:c.700C= ENSP00000477429.1:p.Arg234=
ENST00000610179.6:c.739C= ENSP00000477429.2:p.Arg247=
ENST00000621507.1:c.196C= ENSP00000481523.1:p.Arg66=
ENST00000643504.2:c.*369C= ENSP00000495157.2:n.*369C=
ENST00000646394.1:c.566C=
XM_005260835.2:c.454C= XP_005260892.1:p.Arg152=
XM_005260835.3:c.454C= XP_005260892.1:p.Arg152=
XM_005260836.3:c.196C= XP_005260893.3:p.Arg66=
XM_005260836.4:c.196C= XP_005260893.3:p.Arg66=
XM_006723631.1:c.196C= XP_006723694.1:p.Arg66=
XM_011529364.1:c.1069C= XP_011527666.1:p.Arg357=
XM_011529364.3:c.1069C= XP_011527666.1:p.Arg357=
XM_017028077.2:c.-240C= XP_016883566.1:n.-240C=
XM_017028078.2:c.-240C= XP_016883567.1:n.-240C=
XM_017028079.2:c.-240C= XP_016883568.1:n.-240C=
XM_024452002.1:c.-240C= XP_024307770.1:n.-240C=
XR_002958533.1:n.1857C=