Canonical Allele Identifier: CA408117872

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893245A>C (hg19) ; chr20:g.3912598A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912598A>C , CM000682.2:g.3912598A>C	GRCh38
NC_000020.10:g.3893245A>C , CM000682.1:g.3893245A>C	GRCh37
NC_000020.9:g.3841245A>C	NCBI36
NG_008131.3:g.28760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1046A>C MANE Select	ENSP00000477429.2:p.Glu349Ala
ENST00000316562.9:c.1376A>C	ENSP00000313377.4:p.Glu459Ala
ENST00000336066.8:c.*387A>C	ENSP00000477229.2:n.*387A>C
ENST00000610179.6:c.1046A>C	ENSP00000477429.2:p.Glu349Ala
ENST00000643504.2:c.*676A>C	ENSP00000495157.2:n.*676A>C
ENST00000646394.1:c.873A>C
ENST00000316562.8:c.1376A>C	ENSP00000313377.4:p.Glu459Ala
ENST00000336066.7:c.*387A>C	ENSP00000477229.1:n.*387A>C
ENST00000464452.1:n.611A>C
ENST00000495692.5:c.68A>C	ENSP00000476745.1:p.Glu23Ala
ENST00000497424.5:c.503A>C	ENSP00000417609.1:p.Glu168Ala
ENST00000610179.5:c.1007A>C	ENSP00000477429.1:p.Glu336Ala
ENST00000621507.1:c.503A>C	ENSP00000481523.1:p.Glu168Ala
NM_024960.4:c.503A>C	NP_079236.3:p.Glu168Ala
NM_153638.2:c.1376A>C	NP_705902.2:p.Glu459Ala
NM_153640.2:c.503A>C	NP_705904.1:p.Glu168Ala
XM_005260835.2:c.761A>C	XP_005260892.1:p.Glu254Ala
XM_005260836.3:c.503A>C	XP_005260893.3:p.Glu168Ala
XM_006723631.1:c.503A>C	XP_006723694.1:p.Glu168Ala
XM_011529364.1:c.1235+1768A>C	XP_011527666.1:n.1235+1768A>C
NM_001324191.1:c.503A>C	NP_001311120.1:p.Glu168Ala
NM_001324193.1:c.68A>C	NP_001311122.1:p.Glu23Ala
NM_024960.5:c.503A>C	NP_079236.3:p.Glu168Ala
NM_153638.3:c.1376A>C	NP_705902.2:p.Glu459Ala
NM_153640.3:c.503A>C	NP_705904.1:p.Glu168Ala
NR_136715.1:n.1400A>C
XM_005260835.3:c.761A>C	XP_005260892.1:p.Glu254Ala
XM_005260836.4:c.503A>C	XP_005260893.3:p.Glu168Ala
XM_011529364.3:c.1235+1768A>C	XP_011527666.1:n.1235+1768A>C
XM_017028077.2:c.68A>C	XP_016883566.1:p.Glu23Ala
XM_017028078.2:c.68A>C	XP_016883567.1:p.Glu23Ala
XM_017028079.2:c.68A>C	XP_016883568.1:p.Glu23Ala
XM_024452002.1:c.68A>C	XP_024307770.1:p.Glu23Ala
XR_002958533.1:n.2164A>C
NM_001324191.2:c.503A>C	NP_001311120.1:p.Glu168Ala
NM_001324193.2:c.68A>C	NP_001311122.1:p.Glu23Ala
NM_024960.6:c.503A>C	NP_079236.3:p.Glu168Ala
NR_136715.2:n.947A>C
NM_001386393.1:c.1046A>C MANE Select	NP_001373322.1:p.Glu349Ala
NM_153638.4:c.1376A>C	NP_705902.2:p.Glu459Ala
NM_153640.4:c.503A>C	NP_705904.1:p.Glu168Ala