Canonical Allele Identifier: CA408117864

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893244G>C (hg19) ; chr20:g.3912597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912597G>C , CM000682.2:g.3912597G>C	GRCh38
NC_000020.10:g.3893244G>C , CM000682.1:g.3893244G>C	GRCh37
NC_000020.9:g.3841244G>C	NCBI36
NG_008131.3:g.28759G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1045G>C MANE Select	ENSP00000477429.2:p.Glu349Gln
ENST00000316562.9:c.1375G>C	ENSP00000313377.4:p.Glu459Gln
ENST00000336066.8:c.*386G>C	ENSP00000477229.2:n.*386G>C
ENST00000610179.6:c.1045G>C	ENSP00000477429.2:p.Glu349Gln
ENST00000643504.2:c.*675G>C	ENSP00000495157.2:n.*675G>C
ENST00000646394.1:c.872G>C
ENST00000316562.8:c.1375G>C	ENSP00000313377.4:p.Glu459Gln
ENST00000336066.7:c.*386G>C	ENSP00000477229.1:n.*386G>C
ENST00000464452.1:n.610G>C
ENST00000495692.5:c.67G>C	ENSP00000476745.1:p.Glu23Gln
ENST00000497424.5:c.502G>C	ENSP00000417609.1:p.Glu168Gln
ENST00000610179.5:c.1006G>C	ENSP00000477429.1:p.Glu336Gln
ENST00000621507.1:c.502G>C	ENSP00000481523.1:p.Glu168Gln
NM_024960.4:c.502G>C	NP_079236.3:p.Glu168Gln
NM_153638.2:c.1375G>C	NP_705902.2:p.Glu459Gln
NM_153640.2:c.502G>C	NP_705904.1:p.Glu168Gln
XM_005260835.2:c.760G>C	XP_005260892.1:p.Glu254Gln
XM_005260836.3:c.502G>C	XP_005260893.3:p.Glu168Gln
XM_006723631.1:c.502G>C	XP_006723694.1:p.Glu168Gln
XM_011529364.1:c.1235+1767G>C	XP_011527666.1:n.1235+1767G>C
NM_001324191.1:c.502G>C	NP_001311120.1:p.Glu168Gln
NM_001324193.1:c.67G>C	NP_001311122.1:p.Glu23Gln
NM_024960.5:c.502G>C	NP_079236.3:p.Glu168Gln
NM_153638.3:c.1375G>C	NP_705902.2:p.Glu459Gln
NM_153640.3:c.502G>C	NP_705904.1:p.Glu168Gln
NR_136715.1:n.1399G>C
XM_005260835.3:c.760G>C	XP_005260892.1:p.Glu254Gln
XM_005260836.4:c.502G>C	XP_005260893.3:p.Glu168Gln
XM_011529364.3:c.1235+1767G>C	XP_011527666.1:n.1235+1767G>C
XM_017028077.2:c.67G>C	XP_016883566.1:p.Glu23Gln
XM_017028078.2:c.67G>C	XP_016883567.1:p.Glu23Gln
XM_017028079.2:c.67G>C	XP_016883568.1:p.Glu23Gln
XM_024452002.1:c.67G>C	XP_024307770.1:p.Glu23Gln
XR_002958533.1:n.2163G>C
NM_001324191.2:c.502G>C	NP_001311120.1:p.Glu168Gln
NM_001324193.2:c.67G>C	NP_001311122.1:p.Glu23Gln
NM_024960.6:c.502G>C	NP_079236.3:p.Glu168Gln
NR_136715.2:n.946G>C
NM_001386393.1:c.1045G>C MANE Select	NP_001373322.1:p.Glu349Gln
NM_153638.4:c.1375G>C	NP_705902.2:p.Glu459Gln
NM_153640.4:c.502G>C	NP_705904.1:p.Glu168Gln