Canonical Allele Identifier: CA311035690

Gene: PANK2

Linked Data

• dbSNP Id: rs863223343
• gnomAD v4: 20-3912514-T-A
• MyVariant Identifiers: chr20:g.3893161T>A (hg19) ; chr20:g.3912514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912514T>A , CM000682.2:g.3912514T>A	GRCh38
NC_000020.10:g.3893161T>A , CM000682.1:g.3893161T>A	GRCh37
NC_000020.9:g.3841161T>A	NCBI36
NG_008131.3:g.28676T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.962T>A MANE Select	ENSP00000477429.2:p.Phe321Tyr
ENST00000316562.9:c.1292T>A	ENSP00000313377.4:p.Phe431Tyr
ENST00000336066.8:c.*303T>A	ENSP00000477229.2:n.*303T>A
ENST00000610179.6:c.962T>A	ENSP00000477429.2:p.Phe321Tyr
ENST00000643504.2:c.*592T>A	ENSP00000495157.2:n.*592T>A
ENST00000646394.1:c.789T>A
ENST00000316562.8:c.1292T>A	ENSP00000313377.4:p.Phe431Tyr
ENST00000336066.7:c.*303T>A	ENSP00000477229.1:n.*303T>A
ENST00000464452.1:n.527T>A
ENST00000495692.5:c.-17T>A	ENSP00000476745.1:n.-17T>A
ENST00000497424.5:c.419T>A	ENSP00000417609.1:p.Phe140Tyr
ENST00000610179.5:c.923T>A	ENSP00000477429.1:p.Phe308Tyr
ENST00000621507.1:c.419T>A	ENSP00000481523.1:p.Phe140Tyr
NM_024960.4:c.419T>A	NP_079236.3:p.Phe140Tyr
NM_153638.2:c.1292T>A	NP_705902.2:p.Phe431Tyr
NM_153640.2:c.419T>A	NP_705904.1:p.Phe140Tyr
XM_005260835.2:c.677T>A	XP_005260892.1:p.Phe226Tyr
XM_005260836.3:c.419T>A	XP_005260893.3:p.Phe140Tyr
XM_006723631.1:c.419T>A	XP_006723694.1:p.Phe140Tyr
XM_011529364.1:c.1235+1684T>A	XP_011527666.1:n.1235+1684T>A
NM_001324191.1:c.419T>A	NP_001311120.1:p.Phe140Tyr
NM_001324193.1:c.-17T>A	NP_001311122.1:n.-17T>A
NM_024960.5:c.419T>A	NP_079236.3:p.Phe140Tyr
NM_153638.3:c.1292T>A	NP_705902.2:p.Phe431Tyr
NM_153640.3:c.419T>A	NP_705904.1:p.Phe140Tyr
NR_136715.1:n.1316T>A
XM_005260835.3:c.677T>A	XP_005260892.1:p.Phe226Tyr
XM_005260836.4:c.419T>A	XP_005260893.3:p.Phe140Tyr
XM_011529364.3:c.1235+1684T>A	XP_011527666.1:n.1235+1684T>A
XM_017028077.2:c.-17T>A	XP_016883566.1:n.-17T>A
XM_017028078.2:c.-17T>A	XP_016883567.1:n.-17T>A
XM_017028079.2:c.-17T>A	XP_016883568.1:n.-17T>A
XM_024452002.1:c.-17T>A	XP_024307770.1:n.-17T>A
XR_002958533.1:n.2080T>A
NM_001324191.2:c.419T>A	NP_001311120.1:p.Phe140Tyr
NM_001324193.2:c.-17T>A	NP_001311122.1:n.-17T>A
NM_024960.6:c.419T>A	NP_079236.3:p.Phe140Tyr
NR_136715.2:n.863T>A
NM_001386393.1:c.962T>A MANE Select	NP_001373322.1:p.Phe321Tyr
NM_153638.4:c.1292T>A	NP_705902.2:p.Phe431Tyr
NM_153640.4:c.419T>A	NP_705904.1:p.Phe140Tyr