Canonical Allele Identifier: CA408115727

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3910812A>T , CM000682.2:g.3910812A>T	GRCh38
NC_000020.10:g.3891459A>T , CM000682.1:g.3891459A>T	GRCh37
NC_000020.9:g.3839459A>T	NCBI36
NG_008131.3:g.26974A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.887A>T MANE Select	NP_001373322.1:p.Lys296Ile
ENST00000610179.7:c.887A>T MANE Select	ENSP00000477429.2:p.Lys296Ile
NM_001324191.1:c.344A>T	NP_001311120.1:p.Lys115Ile
NM_001324191.2:c.344A>T	NP_001311120.1:p.Lys115Ile
NM_001324193.1:c.-92A>T	NP_001311122.1:n.-92A>T
NM_001324193.2:c.-92A>T	NP_001311122.1:n.-92A>T
NM_024960.4:c.344A>T	NP_079236.3:p.Lys115Ile
NM_024960.5:c.344A>T	NP_079236.3:p.Lys115Ile
NM_024960.6:c.344A>T	NP_079236.3:p.Lys115Ile
NM_153638.2:c.1217A>T	NP_705902.2:p.Lys406Ile
NM_153638.3:c.1217A>T	NP_705902.2:p.Lys406Ile
NM_153638.4:c.1217A>T	NP_705902.2:p.Lys406Ile
NM_153640.2:c.344A>T	NP_705904.1:p.Lys115Ile
NM_153640.3:c.344A>T	NP_705904.1:p.Lys115Ile
NM_153640.4:c.344A>T	NP_705904.1:p.Lys115Ile
NR_136715.1:n.1241A>T
NR_136715.2:n.788A>T
ENST00000316562.8:c.1217A>T	ENSP00000313377.4:p.Lys406Ile
ENST00000316562.9:c.1217A>T	ENSP00000313377.4:p.Lys406Ile
ENST00000336066.7:c.*228A>T	ENSP00000477229.1:n.*228A>T
ENST00000336066.8:c.*228A>T	ENSP00000477229.2:n.*228A>T
ENST00000464452.1:n.452A>T
ENST00000471830.1:n.618A>T
ENST00000495692.5:c.-92A>T	ENSP00000476745.1:n.-92A>T
ENST00000497424.5:c.344A>T	ENSP00000417609.1:p.Lys115Ile
ENST00000610179.5:c.848A>T	ENSP00000477429.1:p.Lys283Ile
ENST00000610179.6:c.887A>T	ENSP00000477429.2:p.Lys296Ile
ENST00000621507.1:c.344A>T	ENSP00000481523.1:p.Lys115Ile
ENST00000643504.2:c.*517A>T	ENSP00000495157.2:n.*517A>T
ENST00000646394.1:c.714A>T
XM_005260835.2:c.602A>T	XP_005260892.1:p.Lys201Ile
XM_005260835.3:c.602A>T	XP_005260892.1:p.Lys201Ile
XM_005260836.3:c.344A>T	XP_005260893.3:p.Lys115Ile
XM_005260836.4:c.344A>T	XP_005260893.3:p.Lys115Ile
XM_006723631.1:c.344A>T	XP_006723694.1:p.Lys115Ile
XM_011529364.1:c.1217A>T	XP_011527666.1:p.Lys406Ile
XM_011529364.3:c.1217A>T	XP_011527666.1:p.Lys406Ile
XM_017028077.2:c.-92A>T	XP_016883566.1:n.-92A>T
XM_017028078.2:c.-92A>T	XP_016883567.1:n.-92A>T
XM_017028079.2:c.-92A>T	XP_016883568.1:n.-92A>T
XM_024452002.1:c.-92A>T	XP_024307770.1:n.-92A>T
XR_002958533.1:n.2005A>T