Canonical Allele Identifier: CA311035741

Gene: PANK2

Linked Data

• ClinVar Variation Id: 1358893
• ClinVar RCV Id: RCV001894352
• dbSNP Id: rs767222898
• gnomAD v2: 20-3893267-G-T
• gnomAD v4: 20-3912620-G-T
• MyVariant Identifiers: chr20:g.3893267G>T (hg19) ; chr20:g.3912620G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912620G>T , CM000682.2:g.3912620G>T	GRCh38
NC_000020.10:g.3893267G>T , CM000682.1:g.3893267G>T	GRCh37
NC_000020.9:g.3841267G>T	NCBI36
NG_008131.3:g.28782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1068G>T MANE Select	ENSP00000477429.2:p.Trp356Cys
ENST00000316562.9:c.1398G>T	ENSP00000313377.4:p.Trp466Cys
ENST00000336066.8:c.*409G>T	ENSP00000477229.2:n.*409G>T
ENST00000610179.6:c.1068G>T	ENSP00000477429.2:p.Trp356Cys
ENST00000643504.2:c.*698G>T	ENSP00000495157.2:n.*698G>T
ENST00000646394.1:c.895G>T
ENST00000316562.8:c.1398G>T	ENSP00000313377.4:p.Trp466Cys
ENST00000336066.7:c.*409G>T	ENSP00000477229.1:n.*409G>T
ENST00000464452.1:n.633G>T
ENST00000495692.5:c.90G>T	ENSP00000476745.1:p.Trp30Cys
ENST00000497424.5:c.525G>T	ENSP00000417609.1:p.Trp175Cys
ENST00000610179.5:c.1029G>T	ENSP00000477429.1:p.Trp343Cys
ENST00000621507.1:c.525G>T	ENSP00000481523.1:p.Trp175Cys
NM_024960.4:c.525G>T	NP_079236.3:p.Trp175Cys
NM_153638.2:c.1398G>T	NP_705902.2:p.Trp466Cys
NM_153640.2:c.525G>T	NP_705904.1:p.Trp175Cys
XM_005260835.2:c.783G>T	XP_005260892.1:p.Trp261Cys
XM_005260836.3:c.525G>T	XP_005260893.3:p.Trp175Cys
XM_006723631.1:c.525G>T	XP_006723694.1:p.Trp175Cys
XM_011529364.1:c.1235+1790G>T	XP_011527666.1:n.1235+1790G>T
NM_001324191.1:c.525G>T	NP_001311120.1:p.Trp175Cys
NM_001324193.1:c.90G>T	NP_001311122.1:p.Trp30Cys
NM_024960.5:c.525G>T	NP_079236.3:p.Trp175Cys
NM_153638.3:c.1398G>T	NP_705902.2:p.Trp466Cys
NM_153640.3:c.525G>T	NP_705904.1:p.Trp175Cys
NR_136715.1:n.1422G>T
XM_005260835.3:c.783G>T	XP_005260892.1:p.Trp261Cys
XM_005260836.4:c.525G>T	XP_005260893.3:p.Trp175Cys
XM_011529364.3:c.1235+1790G>T	XP_011527666.1:n.1235+1790G>T
XM_017028077.2:c.90G>T	XP_016883566.1:p.Trp30Cys
XM_017028078.2:c.90G>T	XP_016883567.1:p.Trp30Cys
XM_017028079.2:c.90G>T	XP_016883568.1:p.Trp30Cys
XM_024452002.1:c.90G>T	XP_024307770.1:p.Trp30Cys
XR_002958533.1:n.2186G>T
NM_001324191.2:c.525G>T	NP_001311120.1:p.Trp175Cys
NM_001324193.2:c.90G>T	NP_001311122.1:p.Trp30Cys
NM_024960.6:c.525G>T	NP_079236.3:p.Trp175Cys
NR_136715.2:n.969G>T
NM_001386393.1:c.1068G>T MANE Select	NP_001373322.1:p.Trp356Cys
NM_153638.4:c.1398G>T	NP_705902.2:p.Trp466Cys
NM_153640.4:c.525G>T	NP_705904.1:p.Trp175Cys