Canonical Allele Identifier: CA408117428

Gene: PANK2

Linked Data

• dbSNP Id: rs80161911
• gnomAD v4: 20-3912516-G-A
• MyVariant Identifiers: chr20:g.3893163G>A (hg19) ; chr20:g.3912516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912516G>A , CM000682.2:g.3912516G>A	GRCh38
NC_000020.10:g.3893163G>A , CM000682.1:g.3893163G>A	GRCh37
NC_000020.9:g.3841163G>A	NCBI36
NG_008131.3:g.28678G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.964G>A MANE Select	ENSP00000477429.2:p.Glu322Lys
ENST00000316562.9:c.1294G>A	ENSP00000313377.4:p.Glu432Lys
ENST00000336066.8:c.*305G>A	ENSP00000477229.2:n.*305G>A
ENST00000610179.6:c.964G>A	ENSP00000477429.2:p.Glu322Lys
ENST00000643504.2:c.*594G>A	ENSP00000495157.2:n.*594G>A
ENST00000646394.1:c.791G>A
ENST00000316562.8:c.1294G>A	ENSP00000313377.4:p.Glu432Lys
ENST00000336066.7:c.*305G>A	ENSP00000477229.1:n.*305G>A
ENST00000464452.1:n.529G>A
ENST00000495692.5:c.-15G>A	ENSP00000476745.1:n.-15G>A
ENST00000497424.5:c.421G>A	ENSP00000417609.1:p.Glu141Lys
ENST00000610179.5:c.925G>A	ENSP00000477429.1:p.Glu309Lys
ENST00000621507.1:c.421G>A	ENSP00000481523.1:p.Glu141Lys
NM_024960.4:c.421G>A	NP_079236.3:p.Glu141Lys
NM_153638.2:c.1294G>A	NP_705902.2:p.Glu432Lys
NM_153640.2:c.421G>A	NP_705904.1:p.Glu141Lys
XM_005260835.2:c.679G>A	XP_005260892.1:p.Glu227Lys
XM_005260836.3:c.421G>A	XP_005260893.3:p.Glu141Lys
XM_006723631.1:c.421G>A	XP_006723694.1:p.Glu141Lys
XM_011529364.1:c.1235+1686G>A	XP_011527666.1:n.1235+1686G>A
NM_001324191.1:c.421G>A	NP_001311120.1:p.Glu141Lys
NM_001324193.1:c.-15G>A	NP_001311122.1:n.-15G>A
NM_024960.5:c.421G>A	NP_079236.3:p.Glu141Lys
NM_153638.3:c.1294G>A	NP_705902.2:p.Glu432Lys
NM_153640.3:c.421G>A	NP_705904.1:p.Glu141Lys
NR_136715.1:n.1318G>A
XM_005260835.3:c.679G>A	XP_005260892.1:p.Glu227Lys
XM_005260836.4:c.421G>A	XP_005260893.3:p.Glu141Lys
XM_011529364.3:c.1235+1686G>A	XP_011527666.1:n.1235+1686G>A
XM_017028077.2:c.-15G>A	XP_016883566.1:n.-15G>A
XM_017028078.2:c.-15G>A	XP_016883567.1:n.-15G>A
XM_017028079.2:c.-15G>A	XP_016883568.1:n.-15G>A
XM_024452002.1:c.-15G>A	XP_024307770.1:n.-15G>A
XR_002958533.1:n.2082G>A
NM_001324191.2:c.421G>A	NP_001311120.1:p.Glu141Lys
NM_001324193.2:c.-15G>A	NP_001311122.1:n.-15G>A
NM_024960.6:c.421G>A	NP_079236.3:p.Glu141Lys
NR_136715.2:n.865G>A
NM_001386393.1:c.964G>A MANE Select	NP_001373322.1:p.Glu322Lys
NM_153638.4:c.1294G>A	NP_705902.2:p.Glu432Lys
NM_153640.4:c.421G>A	NP_705904.1:p.Glu141Lys