Canonical Allele Identifier: CA408115847

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3910831G>C , CM000682.2:g.3910831G>C	GRCh38
NC_000020.10:g.3891478G>C , CM000682.1:g.3891478G>C	GRCh37
NC_000020.9:g.3839478G>C	NCBI36
NG_008131.3:g.26993G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.905+1G>C MANE Select	NP_001373322.1:n.905+1G>C
ENST00000610179.7:c.905+1G>C MANE Select	ENSP00000477429.2:n.905+1G>C
NM_001324191.1:c.362+1G>C	NP_001311120.1:n.362+1G>C
NM_001324191.2:c.362+1G>C	NP_001311120.1:n.362+1G>C
NM_001324193.1:c.-74+1G>C	NP_001311122.1:n.-74+1G>C
NM_001324193.2:c.-74+1G>C	NP_001311122.1:n.-74+1G>C
NM_024960.4:c.362+1G>C	NP_079236.3:n.362+1G>C
NM_024960.5:c.362+1G>C	NP_079236.3:n.362+1G>C
NM_024960.6:c.362+1G>C	NP_079236.3:n.362+1G>C
NM_153638.2:c.1235+1G>C	NP_705902.2:n.1235+1G>C
NM_153638.3:c.1235+1G>C	NP_705902.2:n.1235+1G>C
NM_153638.4:c.1235+1G>C	NP_705902.2:n.1235+1G>C
NM_153640.2:c.362+1G>C	NP_705904.1:n.362+1G>C
NM_153640.3:c.362+1G>C	NP_705904.1:n.362+1G>C
NM_153640.4:c.362+1G>C	NP_705904.1:n.362+1G>C
NR_136715.1:n.1259+1G>C
NR_136715.2:n.806+1G>C
ENST00000316562.8:c.1235+1G>C	ENSP00000313377.4:n.1235+1G>C
ENST00000316562.9:c.1235+1G>C	ENSP00000313377.4:n.1235+1G>C
ENST00000336066.7:c.*246+1G>C	ENSP00000477229.1:n.*246+1G>C
ENST00000336066.8:c.*246+1G>C	ENSP00000477229.2:n.*246+1G>C
ENST00000464452.1:n.470+1G>C
ENST00000495692.5:c.-74+1G>C	ENSP00000476745.1:n.-74+1G>C
ENST00000497424.5:c.362+1G>C	ENSP00000417609.1:n.362+1G>C
ENST00000610179.5:c.866+1G>C	ENSP00000477429.1:n.866+1G>C
ENST00000610179.6:c.905+1G>C	ENSP00000477429.2:n.905+1G>C
ENST00000621507.1:c.362+1G>C	ENSP00000481523.1:n.362+1G>C
ENST00000643504.2:c.*535+1G>C	ENSP00000495157.2:n.*535+1G>C
ENST00000646394.1:c.732+1G>C
XM_005260835.2:c.620+1G>C	XP_005260892.1:n.620+1G>C
XM_005260835.3:c.620+1G>C	XP_005260892.1:n.620+1G>C
XM_005260836.3:c.362+1G>C	XP_005260893.3:n.362+1G>C
XM_005260836.4:c.362+1G>C	XP_005260893.3:n.362+1G>C
XM_006723631.1:c.362+1G>C	XP_006723694.1:n.362+1G>C
XM_011529364.1:c.1235+1G>C	XP_011527666.1:n.1235+1G>C
XM_011529364.3:c.1235+1G>C	XP_011527666.1:n.1235+1G>C
XM_017028077.2:c.-74+1G>C	XP_016883566.1:n.-74+1G>C
XM_017028078.2:c.-74+1G>C	XP_016883567.1:n.-74+1G>C
XM_017028079.2:c.-74+1G>C	XP_016883568.1:n.-74+1G>C
XM_024452002.1:c.-74+1G>C	XP_024307770.1:n.-74+1G>C
XR_002958533.1:n.2023+1G>C