Canonical Allele Identifier: CA9750785

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3910806A>T , CM000682.2:g.3910806A>T	GRCh38
NC_000020.10:g.3891453A>T , CM000682.1:g.3891453A>T	GRCh37
NC_000020.9:g.3839453A>T	NCBI36
NG_008131.3:g.26968A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.881A>T MANE Select	NP_001373322.1:p.Asn294Ile
ENST00000610179.7:c.881A>T MANE Select	ENSP00000477429.2:p.Asn294Ile
NM_001324191.1:c.338A>T	NP_001311120.1:p.Asn113Ile
NM_001324191.2:c.338A>T	NP_001311120.1:p.Asn113Ile
NM_001324193.1:c.-98A>T	NP_001311122.1:n.-98A>T
NM_001324193.2:c.-98A>T	NP_001311122.1:n.-98A>T
NM_024960.4:c.338A>T	NP_079236.3:p.Asn113Ile
NM_024960.5:c.338A>T	NP_079236.3:p.Asn113Ile
NM_024960.6:c.338A>T	NP_079236.3:p.Asn113Ile
NM_153638.2:c.1211A>T	NP_705902.2:p.Asn404Ile
NM_153638.3:c.1211A>T	NP_705902.2:p.Asn404Ile
NM_153638.4:c.1211A>T	NP_705902.2:p.Asn404Ile
NM_153640.2:c.338A>T	NP_705904.1:p.Asn113Ile
NM_153640.3:c.338A>T	NP_705904.1:p.Asn113Ile
NM_153640.4:c.338A>T	NP_705904.1:p.Asn113Ile
NR_136715.1:n.1235A>T
NR_136715.2:n.782A>T
ENST00000316562.8:c.1211A>T	ENSP00000313377.4:p.Asn404Ile
ENST00000316562.9:c.1211A>T	ENSP00000313377.4:p.Asn404Ile
ENST00000336066.7:c.*222A>T	ENSP00000477229.1:n.*222A>T
ENST00000336066.8:c.*222A>T	ENSP00000477229.2:n.*222A>T
ENST00000464452.1:n.446A>T
ENST00000471830.1:n.612A>T
ENST00000495692.5:c.-98A>T	ENSP00000476745.1:n.-98A>T
ENST00000497424.5:c.338A>T	ENSP00000417609.1:p.Asn113Ile
ENST00000610179.5:c.842A>T	ENSP00000477429.1:p.Asn281Ile
ENST00000610179.6:c.881A>T	ENSP00000477429.2:p.Asn294Ile
ENST00000621507.1:c.338A>T	ENSP00000481523.1:p.Asn113Ile
ENST00000643504.2:c.*511A>T	ENSP00000495157.2:n.*511A>T
ENST00000646394.1:c.708A>T
XM_005260835.2:c.596A>T	XP_005260892.1:p.Asn199Ile
XM_005260835.3:c.596A>T	XP_005260892.1:p.Asn199Ile
XM_005260836.3:c.338A>T	XP_005260893.3:p.Asn113Ile
XM_005260836.4:c.338A>T	XP_005260893.3:p.Asn113Ile
XM_006723631.1:c.338A>T	XP_006723694.1:p.Asn113Ile
XM_011529364.1:c.1211A>T	XP_011527666.1:p.Asn404Ile
XM_011529364.3:c.1211A>T	XP_011527666.1:p.Asn404Ile
XM_017028077.2:c.-98A>T	XP_016883566.1:n.-98A>T
XM_017028078.2:c.-98A>T	XP_016883567.1:n.-98A>T
XM_017028079.2:c.-98A>T	XP_016883568.1:n.-98A>T
XM_024452002.1:c.-98A>T	XP_024307770.1:n.-98A>T
XR_002958533.1:n.1999A>T