Canonical Allele Identifier: CA408117546

Gene: PANK2

Linked Data

• gnomAD v4: 20-3912538-C-T
• MyVariant Identifiers: chr20:g.3893185C>T (hg19) ; chr20:g.3912538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912538C>T , CM000682.2:g.3912538C>T	GRCh38
NC_000020.10:g.3893185C>T , CM000682.1:g.3893185C>T	GRCh37
NC_000020.9:g.3841185C>T	NCBI36
NG_008131.3:g.28700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.986C>T MANE Select	ENSP00000477429.2:p.Ser329Phe
ENST00000316562.9:c.1316C>T	ENSP00000313377.4:p.Ser439Phe
ENST00000336066.8:c.*327C>T	ENSP00000477229.2:n.*327C>T
ENST00000610179.6:c.986C>T	ENSP00000477429.2:p.Ser329Phe
ENST00000643504.2:c.*616C>T	ENSP00000495157.2:n.*616C>T
ENST00000646394.1:c.813C>T
ENST00000316562.8:c.1316C>T	ENSP00000313377.4:p.Ser439Phe
ENST00000336066.7:c.*327C>T	ENSP00000477229.1:n.*327C>T
ENST00000464452.1:n.551C>T
ENST00000495692.5:c.8C>T	ENSP00000476745.1:p.Ser3Phe
ENST00000497424.5:c.443C>T	ENSP00000417609.1:p.Ser148Phe
ENST00000610179.5:c.947C>T	ENSP00000477429.1:p.Ser316Phe
ENST00000621507.1:c.443C>T	ENSP00000481523.1:p.Ser148Phe
NM_024960.4:c.443C>T	NP_079236.3:p.Ser148Phe
NM_153638.2:c.1316C>T	NP_705902.2:p.Ser439Phe
NM_153640.2:c.443C>T	NP_705904.1:p.Ser148Phe
XM_005260835.2:c.701C>T	XP_005260892.1:p.Ser234Phe
XM_005260836.3:c.443C>T	XP_005260893.3:p.Ser148Phe
XM_006723631.1:c.443C>T	XP_006723694.1:p.Ser148Phe
XM_011529364.1:c.1235+1708C>T	XP_011527666.1:n.1235+1708C>T
NM_001324191.1:c.443C>T	NP_001311120.1:p.Ser148Phe
NM_001324193.1:c.8C>T	NP_001311122.1:p.Ser3Phe
NM_024960.5:c.443C>T	NP_079236.3:p.Ser148Phe
NM_153638.3:c.1316C>T	NP_705902.2:p.Ser439Phe
NM_153640.3:c.443C>T	NP_705904.1:p.Ser148Phe
NR_136715.1:n.1340C>T
XM_005260835.3:c.701C>T	XP_005260892.1:p.Ser234Phe
XM_005260836.4:c.443C>T	XP_005260893.3:p.Ser148Phe
XM_011529364.3:c.1235+1708C>T	XP_011527666.1:n.1235+1708C>T
XM_017028077.2:c.8C>T	XP_016883566.1:p.Ser3Phe
XM_017028078.2:c.8C>T	XP_016883567.1:p.Ser3Phe
XM_017028079.2:c.8C>T	XP_016883568.1:p.Ser3Phe
XM_024452002.1:c.8C>T	XP_024307770.1:p.Ser3Phe
XR_002958533.1:n.2104C>T
NM_001324191.2:c.443C>T	NP_001311120.1:p.Ser148Phe
NM_001324193.2:c.8C>T	NP_001311122.1:p.Ser3Phe
NM_024960.6:c.443C>T	NP_079236.3:p.Ser148Phe
NR_136715.2:n.887C>T
NM_001386393.1:c.986C>T MANE Select	NP_001373322.1:p.Ser329Phe
NM_153638.4:c.1316C>T	NP_705902.2:p.Ser439Phe
NM_153640.4:c.443C>T	NP_705904.1:p.Ser148Phe