Canonical Allele Identifier: CA408117583

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893195T>A (hg19) ; chr20:g.3912548T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912548T>A , CM000682.2:g.3912548T>A	GRCh38
NC_000020.10:g.3893195T>A , CM000682.1:g.3893195T>A	GRCh37
NC_000020.9:g.3841195T>A	NCBI36
NG_008131.3:g.28710T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.996T>A MANE Select	ENSP00000477429.2:p.Asp332Glu
ENST00000316562.9:c.1326T>A	ENSP00000313377.4:p.Asp442Glu
ENST00000336066.8:c.*337T>A	ENSP00000477229.2:n.*337T>A
ENST00000610179.6:c.996T>A	ENSP00000477429.2:p.Asp332Glu
ENST00000643504.2:c.*626T>A	ENSP00000495157.2:n.*626T>A
ENST00000646394.1:c.823T>A
ENST00000316562.8:c.1326T>A	ENSP00000313377.4:p.Asp442Glu
ENST00000336066.7:c.*337T>A	ENSP00000477229.1:n.*337T>A
ENST00000464452.1:n.561T>A
ENST00000495692.5:c.18T>A	ENSP00000476745.1:p.Asp6Glu
ENST00000497424.5:c.453T>A	ENSP00000417609.1:p.Asp151Glu
ENST00000610179.5:c.957T>A	ENSP00000477429.1:p.Asp319Glu
ENST00000621507.1:c.453T>A	ENSP00000481523.1:p.Asp151Glu
NM_024960.4:c.453T>A	NP_079236.3:p.Asp151Glu
NM_153638.2:c.1326T>A	NP_705902.2:p.Asp442Glu
NM_153640.2:c.453T>A	NP_705904.1:p.Asp151Glu
XM_005260835.2:c.711T>A	XP_005260892.1:p.Asp237Glu
XM_005260836.3:c.453T>A	XP_005260893.3:p.Asp151Glu
XM_006723631.1:c.453T>A	XP_006723694.1:p.Asp151Glu
XM_011529364.1:c.1235+1718T>A	XP_011527666.1:n.1235+1718T>A
NM_001324191.1:c.453T>A	NP_001311120.1:p.Asp151Glu
NM_001324193.1:c.18T>A	NP_001311122.1:p.Asp6Glu
NM_024960.5:c.453T>A	NP_079236.3:p.Asp151Glu
NM_153638.3:c.1326T>A	NP_705902.2:p.Asp442Glu
NM_153640.3:c.453T>A	NP_705904.1:p.Asp151Glu
NR_136715.1:n.1350T>A
XM_005260835.3:c.711T>A	XP_005260892.1:p.Asp237Glu
XM_005260836.4:c.453T>A	XP_005260893.3:p.Asp151Glu
XM_011529364.3:c.1235+1718T>A	XP_011527666.1:n.1235+1718T>A
XM_017028077.2:c.18T>A	XP_016883566.1:p.Asp6Glu
XM_017028078.2:c.18T>A	XP_016883567.1:p.Asp6Glu
XM_017028079.2:c.18T>A	XP_016883568.1:p.Asp6Glu
XM_024452002.1:c.18T>A	XP_024307770.1:p.Asp6Glu
XR_002958533.1:n.2114T>A
NM_001324191.2:c.453T>A	NP_001311120.1:p.Asp151Glu
NM_001324193.2:c.18T>A	NP_001311122.1:p.Asp6Glu
NM_024960.6:c.453T>A	NP_079236.3:p.Asp151Glu
NR_136715.2:n.897T>A
NM_001386393.1:c.996T>A MANE Select	NP_001373322.1:p.Asp332Glu
NM_153638.4:c.1326T>A	NP_705902.2:p.Asp442Glu
NM_153640.4:c.453T>A	NP_705904.1:p.Asp151Glu