Canonical Allele Identifier: CA408120898
Community Standard Title: NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3918794G>A , CM000682.2:g.3918794G>A GRCh38
NC_000020.10:g.3899441G>A , CM000682.1:g.3899441G>A GRCh37
NC_000020.9:g.3847441G>A NCBI36
NG_008131.3:g.34956G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001386393.1:c.1330G>A MANE Select NP_001373322.1:p.Glu444Lys
ENST00000610179.7:c.1330G>A MANE Select ENSP00000477429.2:p.Glu444Lys
NM_001324191.1:c.787G>A NP_001311120.1:p.Glu263Lys
NM_001324191.2:c.787G>A NP_001311120.1:p.Glu263Lys
NM_001324193.1:c.352G>A NP_001311122.1:p.Glu118Lys
NM_001324193.2:c.352G>A NP_001311122.1:p.Glu118Lys
NM_024960.4:c.787G>A NP_079236.3:p.Glu263Lys
NM_024960.5:c.787G>A NP_079236.3:p.Glu263Lys
NM_024960.6:c.787G>A NP_079236.3:p.Glu263Lys
NM_153638.2:c.1660G>A NP_705902.2:p.Glu554Lys
NM_153638.3:c.1660G>A NP_705902.2:p.Glu554Lys
NM_153638.4:c.1660G>A NP_705902.2:p.Glu554Lys
NM_153640.2:c.787G>A NP_705904.1:p.Glu263Lys
NM_153640.3:c.787G>A NP_705904.1:p.Glu263Lys
NM_153640.4:c.787G>A NP_705904.1:p.Glu263Lys
NR_136715.1:n.1684G>A
NR_136715.2:n.1231G>A
ENST00000316562.8:c.1660G>A ENSP00000313377.4:p.Glu554Lys
ENST00000316562.9:c.1660G>A ENSP00000313377.4:p.Glu554Lys
ENST00000336066.7:c.*671G>A ENSP00000477229.1:n.*671G>A
ENST00000336066.8:c.*671G>A ENSP00000477229.2:n.*671G>A
ENST00000497424.5:c.787G>A ENSP00000417609.1:p.Glu263Lys
ENST00000610179.5:c.1291G>A ENSP00000477429.1:p.Glu431Lys
ENST00000610179.6:c.1330G>A ENSP00000477429.2:p.Glu444Lys
ENST00000621507.1:c.787G>A ENSP00000481523.1:p.Glu263Lys
ENST00000643504.2:c.*960G>A ENSP00000495157.2:n.*960G>A
ENST00000646394.1:c.1157G>A
XM_005260835.2:c.1045G>A XP_005260892.1:p.Glu349Lys
XM_005260835.3:c.1045G>A XP_005260892.1:p.Glu349Lys
XM_005260836.3:c.787G>A XP_005260893.3:p.Glu263Lys
XM_005260836.4:c.787G>A XP_005260893.3:p.Glu263Lys
XM_006723631.1:c.787G>A XP_006723694.1:p.Glu263Lys
XM_011529364.1:c.1483G>A XP_011527666.1:p.Glu495Lys
XM_011529364.3:c.1483G>A XP_011527666.1:p.Glu495Lys
XM_017028077.2:c.352G>A XP_016883566.1:p.Glu118Lys
XM_017028078.2:c.352G>A XP_016883567.1:p.Glu118Lys
XM_017028079.2:c.352G>A XP_016883568.1:p.Glu118Lys
XM_024452002.1:c.352G>A XP_024307770.1:p.Glu118Lys
XR_002958533.1:n.2448G>A