Canonical Allele Identifier: CA408120453

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3918717C>G , CM000682.2:g.3918717C>G	GRCh38
NC_000020.10:g.3899364C>G , CM000682.1:g.3899364C>G	GRCh37
NC_000020.9:g.3847364C>G	NCBI36
NG_008131.3:g.34879C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1253C>G MANE Select	NP_001373322.1:p.Thr418Arg
ENST00000610179.7:c.1253C>G MANE Select	ENSP00000477429.2:p.Thr418Arg
NM_001324191.1:c.710C>G	NP_001311120.1:p.Thr237Arg
NM_001324191.2:c.710C>G	NP_001311120.1:p.Thr237Arg
NM_001324193.1:c.275C>G	NP_001311122.1:p.Thr92Arg
NM_001324193.2:c.275C>G	NP_001311122.1:p.Thr92Arg
NM_024960.4:c.710C>G	NP_079236.3:p.Thr237Arg
NM_024960.5:c.710C>G	NP_079236.3:p.Thr237Arg
NM_024960.6:c.710C>G	NP_079236.3:p.Thr237Arg
NM_153638.2:c.1583C>G	NP_705902.2:p.Thr528Arg
NM_153638.3:c.1583C>G	NP_705902.2:p.Thr528Arg
NM_153638.4:c.1583C>G	NP_705902.2:p.Thr528Arg
NM_153640.2:c.710C>G	NP_705904.1:p.Thr237Arg
NM_153640.3:c.710C>G	NP_705904.1:p.Thr237Arg
NM_153640.4:c.710C>G	NP_705904.1:p.Thr237Arg
NR_136715.1:n.1607C>G
NR_136715.2:n.1154C>G
ENST00000316562.8:c.1583C>G	ENSP00000313377.4:p.Thr528Arg
ENST00000316562.9:c.1583C>G	ENSP00000313377.4:p.Thr528Arg
ENST00000336066.7:c.*594C>G	ENSP00000477229.1:n.*594C>G
ENST00000336066.8:c.*594C>G	ENSP00000477229.2:n.*594C>G
ENST00000495692.5:c.275C>G	ENSP00000476745.1:p.Thr92Arg
ENST00000497424.5:c.710C>G	ENSP00000417609.1:p.Thr237Arg
ENST00000610179.5:c.1214C>G	ENSP00000477429.1:p.Thr405Arg
ENST00000610179.6:c.1253C>G	ENSP00000477429.2:p.Thr418Arg
ENST00000621507.1:c.710C>G	ENSP00000481523.1:p.Thr237Arg
ENST00000643504.2:c.*883C>G	ENSP00000495157.2:n.*883C>G
ENST00000646394.1:c.1080C>G
XM_005260835.2:c.968C>G	XP_005260892.1:p.Thr323Arg
XM_005260835.3:c.968C>G	XP_005260892.1:p.Thr323Arg
XM_005260836.3:c.710C>G	XP_005260893.3:p.Thr237Arg
XM_005260836.4:c.710C>G	XP_005260893.3:p.Thr237Arg
XM_006723631.1:c.710C>G	XP_006723694.1:p.Thr237Arg
XM_011529364.1:c.1406C>G	XP_011527666.1:p.Thr469Arg
XM_011529364.3:c.1406C>G	XP_011527666.1:p.Thr469Arg
XM_017028077.2:c.275C>G	XP_016883566.1:p.Thr92Arg
XM_017028078.2:c.275C>G	XP_016883567.1:p.Thr92Arg
XM_017028079.2:c.275C>G	XP_016883568.1:p.Thr92Arg
XM_024452002.1:c.275C>G	XP_024307770.1:p.Thr92Arg
XR_002958533.1:n.2371C>G