Canonical Allele Identifier: CA408117409

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893160T>A (hg19) ; chr20:g.3912513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912513T>A , CM000682.2:g.3912513T>A	GRCh38
NC_000020.10:g.3893160T>A , CM000682.1:g.3893160T>A	GRCh37
NC_000020.9:g.3841160T>A	NCBI36
NG_008131.3:g.28675T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.961T>A MANE Select	ENSP00000477429.2:p.Phe321Ile
ENST00000316562.9:c.1291T>A	ENSP00000313377.4:p.Phe431Ile
ENST00000336066.8:c.*302T>A	ENSP00000477229.2:n.*302T>A
ENST00000610179.6:c.961T>A	ENSP00000477429.2:p.Phe321Ile
ENST00000643504.2:c.*591T>A	ENSP00000495157.2:n.*591T>A
ENST00000646394.1:c.788T>A
ENST00000316562.8:c.1291T>A	ENSP00000313377.4:p.Phe431Ile
ENST00000336066.7:c.*302T>A	ENSP00000477229.1:n.*302T>A
ENST00000464452.1:n.526T>A
ENST00000495692.5:c.-18T>A	ENSP00000476745.1:n.-18T>A
ENST00000497424.5:c.418T>A	ENSP00000417609.1:p.Phe140Ile
ENST00000610179.5:c.922T>A	ENSP00000477429.1:p.Phe308Ile
ENST00000621507.1:c.418T>A	ENSP00000481523.1:p.Phe140Ile
NM_024960.4:c.418T>A	NP_079236.3:p.Phe140Ile
NM_153638.2:c.1291T>A	NP_705902.2:p.Phe431Ile
NM_153640.2:c.418T>A	NP_705904.1:p.Phe140Ile
XM_005260835.2:c.676T>A	XP_005260892.1:p.Phe226Ile
XM_005260836.3:c.418T>A	XP_005260893.3:p.Phe140Ile
XM_006723631.1:c.418T>A	XP_006723694.1:p.Phe140Ile
XM_011529364.1:c.1235+1683T>A	XP_011527666.1:n.1235+1683T>A
NM_001324191.1:c.418T>A	NP_001311120.1:p.Phe140Ile
NM_001324193.1:c.-18T>A	NP_001311122.1:n.-18T>A
NM_024960.5:c.418T>A	NP_079236.3:p.Phe140Ile
NM_153638.3:c.1291T>A	NP_705902.2:p.Phe431Ile
NM_153640.3:c.418T>A	NP_705904.1:p.Phe140Ile
NR_136715.1:n.1315T>A
XM_005260835.3:c.676T>A	XP_005260892.1:p.Phe226Ile
XM_005260836.4:c.418T>A	XP_005260893.3:p.Phe140Ile
XM_011529364.3:c.1235+1683T>A	XP_011527666.1:n.1235+1683T>A
XM_017028077.2:c.-18T>A	XP_016883566.1:n.-18T>A
XM_017028078.2:c.-18T>A	XP_016883567.1:n.-18T>A
XM_017028079.2:c.-18T>A	XP_016883568.1:n.-18T>A
XM_024452002.1:c.-18T>A	XP_024307770.1:n.-18T>A
XR_002958533.1:n.2079T>A
NM_001324191.2:c.418T>A	NP_001311120.1:p.Phe140Ile
NM_001324193.2:c.-18T>A	NP_001311122.1:n.-18T>A
NM_024960.6:c.418T>A	NP_079236.3:p.Phe140Ile
NR_136715.2:n.862T>A
NM_001386393.1:c.961T>A MANE Select	NP_001373322.1:p.Phe321Ile
NM_153638.4:c.1291T>A	NP_705902.2:p.Phe431Ile
NM_153640.4:c.418T>A	NP_705904.1:p.Phe140Ile