Canonical Allele Identifier: CA509423239
Gene: PANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2767187
ClinVar RCV Id: RCV003503394
MyVariant Identifiers: chr20:g.3893256C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3912609C>T , CM000682.2:g.3912609C>T GRCh38
NC_000020.10:g.3893256C>T , CM000682.1:g.3893256C>T GRCh37
NC_000020.9:g.3841256C>T NCBI36
NG_008131.3:g.28771C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000610179.7:c.1057C>T MANE Select ENSP00000477429.2:p.Leu353=
ENST00000316562.9:c.1387C>T ENSP00000313377.4:p.Leu463=
ENST00000336066.8:c.*398C>T ENSP00000477229.2:n.*398C>T
ENST00000610179.6:c.1057C>T ENSP00000477429.2:p.Leu353=
ENST00000643504.2:c.*687C>T ENSP00000495157.2:n.*687C>T
ENST00000646394.1:c.884C>T
ENST00000316562.8:c.1387C>T ENSP00000313377.4:p.Leu463=
ENST00000336066.7:c.*398C>T ENSP00000477229.1:n.*398C>T
ENST00000464452.1:n.622C>T
ENST00000495692.5:c.79C>T ENSP00000476745.1:p.Leu27=
ENST00000497424.5:c.514C>T ENSP00000417609.1:p.Leu172=
ENST00000610179.5:c.1018C>T ENSP00000477429.1:p.Leu340=
ENST00000621507.1:c.514C>T ENSP00000481523.1:p.Leu172=
NM_024960.4:c.514C>T NP_079236.3:p.Leu172=
NM_153638.2:c.1387C>T NP_705902.2:p.Leu463=
NM_153640.2:c.514C>T NP_705904.1:p.Leu172=
XM_005260835.2:c.772C>T XP_005260892.1:p.Leu258=
XM_005260836.3:c.514C>T XP_005260893.3:p.Leu172=
XM_006723631.1:c.514C>T XP_006723694.1:p.Leu172=
XM_011529364.1:c.1235+1779C>T XP_011527666.1:n.1235+1779C>T
NM_001324191.1:c.514C>T NP_001311120.1:p.Leu172=
NM_001324193.1:c.79C>T NP_001311122.1:p.Leu27=
NM_024960.5:c.514C>T NP_079236.3:p.Leu172=
NM_153638.3:c.1387C>T NP_705902.2:p.Leu463=
NM_153640.3:c.514C>T NP_705904.1:p.Leu172=
NR_136715.1:n.1411C>T
XM_005260835.3:c.772C>T XP_005260892.1:p.Leu258=
XM_005260836.4:c.514C>T XP_005260893.3:p.Leu172=
XM_011529364.3:c.1235+1779C>T XP_011527666.1:n.1235+1779C>T
XM_017028077.2:c.79C>T XP_016883566.1:p.Leu27=
XM_017028078.2:c.79C>T XP_016883567.1:p.Leu27=
XM_017028079.2:c.79C>T XP_016883568.1:p.Leu27=
XM_024452002.1:c.79C>T XP_024307770.1:p.Leu27=
XR_002958533.1:n.2175C>T
NM_001324191.2:c.514C>T NP_001311120.1:p.Leu172=
NM_001324193.2:c.79C>T NP_001311122.1:p.Leu27=
NM_024960.6:c.514C>T NP_079236.3:p.Leu172=
NR_136715.2:n.958C>T
NM_001386393.1:c.1057C>T MANE Select NP_001373322.1:p.Leu353=
NM_153638.4:c.1387C>T NP_705902.2:p.Leu463=
NM_153640.4:c.514C>T NP_705904.1:p.Leu172=