Canonical Allele Identifier: CA408112887

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888875T>A (hg19) ; chr20:g.3908228T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908228T>A , CM000682.2:g.3908228T>A	GRCh38
NC_000020.10:g.3888875T>A , CM000682.1:g.3888875T>A	GRCh37
NC_000020.9:g.3836875T>A	NCBI36
NG_008131.3:g.24390T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.601T>A MANE Select	ENSP00000477429.2:p.Phe201Ile
ENST00000316562.9:c.931T>A	ENSP00000313377.4:p.Phe311Ile
ENST00000336066.8:c.508+93T>A	ENSP00000477229.2:n.508+93T>A
ENST00000610179.6:c.601T>A	ENSP00000477429.2:p.Phe201Ile
ENST00000643504.2:c.*281+93T>A	ENSP00000495157.2:n.*281+93T>A
ENST00000646394.1:c.428T>A
ENST00000316562.8:c.931T>A	ENSP00000313377.4:p.Phe311Ile
ENST00000336066.7:c.469+93T>A	ENSP00000477229.1:n.469+93T>A
ENST00000471830.1:n.382+93T>A
ENST00000495692.5:c.-328+93T>A	ENSP00000476745.1:n.-328+93T>A
ENST00000497424.5:c.58T>A	ENSP00000417609.1:p.Phe20Ile
ENST00000610179.5:c.562T>A	ENSP00000477429.1:p.Phe188Ile
ENST00000621507.1:c.58T>A	ENSP00000481523.1:p.Phe20Ile
NM_024960.4:c.58T>A	NP_079236.3:p.Phe20Ile
NM_153638.2:c.931T>A	NP_705902.2:p.Phe311Ile
NM_153640.2:c.58T>A	NP_705904.1:p.Phe20Ile
XM_005260835.2:c.316T>A	XP_005260892.1:p.Phe106Ile
XM_005260836.3:c.58T>A	XP_005260893.3:p.Phe20Ile
XM_006723631.1:c.58T>A	XP_006723694.1:p.Phe20Ile
XM_011529364.1:c.931T>A	XP_011527666.1:p.Phe311Ile
XM_011529365.1:c.838+93T>A	XP_011527667.1:n.838+93T>A
NM_001324191.1:c.58T>A	NP_001311120.1:p.Phe20Ile
NM_001324192.1:c.931T>A	NP_001311121.1:p.Phe311Ile
NM_001324193.1:c.-328+93T>A	NP_001311122.1:n.-328+93T>A
NM_024960.5:c.58T>A	NP_079236.3:p.Phe20Ile
NM_153638.3:c.931T>A	NP_705902.2:p.Phe311Ile
NM_153640.3:c.58T>A	NP_705904.1:p.Phe20Ile
NR_136715.1:n.1005+93T>A
XM_005260835.3:c.316T>A	XP_005260892.1:p.Phe106Ile
XM_005260836.4:c.58T>A	XP_005260893.3:p.Phe20Ile
XM_011529364.3:c.931T>A	XP_011527666.1:p.Phe311Ile
XM_011529365.2:c.838+93T>A	XP_011527667.1:n.838+93T>A
XM_017028077.2:c.-328+93T>A	XP_016883566.1:n.-328+93T>A
XM_017028078.2:c.-328+93T>A	XP_016883567.1:n.-328+93T>A
XM_017028079.2:c.-328+93T>A	XP_016883568.1:n.-328+93T>A
XM_024452002.1:c.-328+93T>A	XP_024307770.1:n.-328+93T>A
XR_002958533.1:n.1092T>A
NM_001324191.2:c.58T>A	NP_001311120.1:p.Phe20Ile
NM_001324193.2:c.-328+93T>A	NP_001311122.1:n.-328+93T>A
NM_024960.6:c.58T>A	NP_079236.3:p.Phe20Ile
NR_136715.2:n.552+93T>A
NM_001386393.1:c.601T>A MANE Select	NP_001373322.1:p.Phe201Ile
NM_153638.4:c.931T>A	NP_705902.2:p.Phe311Ile
NM_153640.4:c.58T>A	NP_705904.1:p.Phe20Ile