Canonical Allele Identifier: CA408118071

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893280A>C (hg19) ; chr20:g.3912633A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912633A>C , CM000682.2:g.3912633A>C	GRCh38
NC_000020.10:g.3893280A>C , CM000682.1:g.3893280A>C	GRCh37
NC_000020.9:g.3841280A>C	NCBI36
NG_008131.3:g.28795A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1081A>C MANE Select	ENSP00000477429.2:p.Ser361Arg
ENST00000316562.9:c.1411A>C	ENSP00000313377.4:p.Ser471Arg
ENST00000336066.8:c.*422A>C	ENSP00000477229.2:n.*422A>C
ENST00000610179.6:c.1081A>C	ENSP00000477429.2:p.Ser361Arg
ENST00000643504.2:c.*711A>C	ENSP00000495157.2:n.*711A>C
ENST00000646394.1:c.908A>C
ENST00000316562.8:c.1411A>C	ENSP00000313377.4:p.Ser471Arg
ENST00000336066.7:c.*422A>C	ENSP00000477229.1:n.*422A>C
ENST00000464452.1:n.646A>C
ENST00000495692.5:c.103A>C	ENSP00000476745.1:p.Ser35Arg
ENST00000497424.5:c.538A>C	ENSP00000417609.1:p.Ser180Arg
ENST00000610179.5:c.1042A>C	ENSP00000477429.1:p.Ser348Arg
ENST00000621507.1:c.538A>C	ENSP00000481523.1:p.Ser180Arg
NM_024960.4:c.538A>C	NP_079236.3:p.Ser180Arg
NM_153638.2:c.1411A>C	NP_705902.2:p.Ser471Arg
NM_153640.2:c.538A>C	NP_705904.1:p.Ser180Arg
XM_005260835.2:c.796A>C	XP_005260892.1:p.Ser266Arg
XM_005260836.3:c.538A>C	XP_005260893.3:p.Ser180Arg
XM_006723631.1:c.538A>C	XP_006723694.1:p.Ser180Arg
XM_011529364.1:c.1235+1803A>C	XP_011527666.1:n.1235+1803A>C
NM_001324191.1:c.538A>C	NP_001311120.1:p.Ser180Arg
NM_001324193.1:c.103A>C	NP_001311122.1:p.Ser35Arg
NM_024960.5:c.538A>C	NP_079236.3:p.Ser180Arg
NM_153638.3:c.1411A>C	NP_705902.2:p.Ser471Arg
NM_153640.3:c.538A>C	NP_705904.1:p.Ser180Arg
NR_136715.1:n.1435A>C
XM_005260835.3:c.796A>C	XP_005260892.1:p.Ser266Arg
XM_005260836.4:c.538A>C	XP_005260893.3:p.Ser180Arg
XM_011529364.3:c.1235+1803A>C	XP_011527666.1:n.1235+1803A>C
XM_017028077.2:c.103A>C	XP_016883566.1:p.Ser35Arg
XM_017028078.2:c.103A>C	XP_016883567.1:p.Ser35Arg
XM_017028079.2:c.103A>C	XP_016883568.1:p.Ser35Arg
XM_024452002.1:c.103A>C	XP_024307770.1:p.Ser35Arg
XR_002958533.1:n.2199A>C
NM_001324191.2:c.538A>C	NP_001311120.1:p.Ser180Arg
NM_001324193.2:c.103A>C	NP_001311122.1:p.Ser35Arg
NM_024960.6:c.538A>C	NP_079236.3:p.Ser180Arg
NR_136715.2:n.982A>C
NM_001386393.1:c.1081A>C MANE Select	NP_001373322.1:p.Ser361Arg
NM_153638.4:c.1411A>C	NP_705902.2:p.Ser471Arg
NM_153640.4:c.538A>C	NP_705904.1:p.Ser180Arg