Canonical Allele Identifier: CA408112308

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888650G>C (hg19) ; chr20:g.3908003G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908003G>C , CM000682.2:g.3908003G>C	GRCh38
NC_000020.10:g.3888650G>C , CM000682.1:g.3888650G>C	GRCh37
NC_000020.9:g.3836650G>C	NCBI36
NG_008131.3:g.24165G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.376G>C MANE Select	ENSP00000477429.2:p.Glu126Gln
ENST00000316562.9:c.706G>C	ENSP00000313377.4:p.Glu236Gln
ENST00000336066.8:c.376G>C	ENSP00000477229.2:p.Glu126Gln
ENST00000610179.6:c.376G>C	ENSP00000477429.2:p.Glu126Gln
ENST00000643504.2:c.*149G>C	ENSP00000495157.2:n.*149G>C
ENST00000646394.1:c.203G>C
ENST00000316562.8:c.706G>C	ENSP00000313377.4:p.Glu236Gln
ENST00000336066.7:c.337G>C	ENSP00000477229.1:p.Glu113Gln
ENST00000471830.1:n.250G>C
ENST00000495692.5:c.-460G>C	ENSP00000476745.1:n.-460G>C
ENST00000497424.5:c.-168G>C	ENSP00000417609.1:n.-168G>C
ENST00000610179.5:c.337G>C	ENSP00000477429.1:p.Glu113Gln
ENST00000621507.1:c.-168G>C	ENSP00000481523.1:n.-168G>C
NM_024960.4:c.-168G>C	NP_079236.3:n.-168G>C
NM_153638.2:c.706G>C	NP_705902.2:p.Glu236Gln
NM_153640.2:c.-168G>C	NP_705904.1:n.-168G>C
XM_005260835.2:c.91G>C	XP_005260892.1:p.Glu31Gln
XM_005260836.3:c.-168G>C	XP_005260893.3:n.-168G>C
XM_006723631.1:c.-168G>C	XP_006723694.1:n.-168G>C
XM_011529364.1:c.706G>C	XP_011527666.1:p.Glu236Gln
XM_011529365.1:c.706G>C	XP_011527667.1:p.Glu236Gln
NM_001324191.1:c.-168G>C	NP_001311120.1:n.-168G>C
NM_001324192.1:c.706G>C	NP_001311121.1:p.Glu236Gln
NM_001324193.1:c.-460G>C	NP_001311122.1:n.-460G>C
NM_024960.5:c.-168G>C	NP_079236.3:n.-168G>C
NM_153638.3:c.706G>C	NP_705902.2:p.Glu236Gln
NM_153640.3:c.-168G>C	NP_705904.1:n.-168G>C
NR_136715.1:n.873G>C
XM_005260835.3:c.91G>C	XP_005260892.1:p.Glu31Gln
XM_005260836.4:c.-168G>C	XP_005260893.3:n.-168G>C
XM_011529364.3:c.706G>C	XP_011527666.1:p.Glu236Gln
XM_011529365.2:c.706G>C	XP_011527667.1:p.Glu236Gln
XM_017028077.2:c.-460G>C	XP_016883566.1:n.-460G>C
XM_017028078.2:c.-460G>C	XP_016883567.1:n.-460G>C
XM_017028079.2:c.-460G>C	XP_016883568.1:n.-460G>C
XM_024452002.1:c.-460G>C	XP_024307770.1:n.-460G>C
XR_002958533.1:n.867G>C
NM_001324191.2:c.-168G>C	NP_001311120.1:n.-168G>C
NM_001324193.2:c.-460G>C	NP_001311122.1:n.-460G>C
NM_024960.6:c.-168G>C	NP_079236.3:n.-168G>C
NR_136715.2:n.420G>C
NM_001386393.1:c.376G>C MANE Select	NP_001373322.1:p.Glu126Gln
NM_153638.4:c.706G>C	NP_705902.2:p.Glu236Gln
NM_153640.4:c.-168G>C	NP_705904.1:n.-168G>C