Canonical Allele Identifier: CA311088837

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889484G>C , CM000682.2:g.3889484G>C	GRCh38
NC_000020.10:g.3870131G>C , CM000682.1:g.3870131G>C	GRCh37
NC_000020.9:g.3818131G>C	NCBI36
NG_008131.3:g.5646G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.54G>C MANE Select	NP_001373322.1:p.Arg18=
ENST00000610179.7:c.54G>C MANE Select	ENSP00000477429.2:p.Arg18=
NM_001324191.1:c.-658G>C	NP_001311120.1:n.-658G>C
NM_001324191.2:c.-658G>C	NP_001311120.1:n.-658G>C
NM_001324192.1:c.384G>C	NP_001311121.1:p.Arg128=
NM_024960.4:c.-246+580G>C	NP_079236.3:n.-246+580G>C
NM_024960.5:c.-246+580G>C	NP_079236.3:n.-246+580G>C
NM_024960.6:c.-246+580G>C	NP_079236.3:n.-246+580G>C
NM_153638.2:c.384G>C	NP_705902.2:p.Arg128=
NM_153638.3:c.384G>C	NP_705902.2:p.Arg128=
NM_153638.4:c.384G>C	NP_705902.2:p.Arg128=
NR_136715.1:n.551G>C
NR_136715.2:n.98G>C
ENST00000316562.8:c.384G>C	ENSP00000313377.4:p.Arg128=
ENST00000316562.9:c.384G>C	ENSP00000313377.4:p.Arg128=
ENST00000336066.7:c.15G>C	ENSP00000477229.1:p.Arg5=
ENST00000336066.8:c.54G>C	ENSP00000477229.2:p.Arg18=
ENST00000495692.5:c.-538+468G>C	ENSP00000476745.1:n.-538+468G>C
ENST00000497424.5:c.-246+580G>C	ENSP00000417609.1:n.-246+580G>C
ENST00000610179.5:c.15G>C	ENSP00000477429.1:p.Arg5=
ENST00000610179.6:c.54G>C	ENSP00000477429.2:p.Arg18=
ENST00000643504.2:c.54G>C	ENSP00000495157.2:p.Arg18=
XM_005260836.3:c.-246+468G>C	XP_005260893.3:n.-246+468G>C
XM_005260836.4:c.-246+468G>C	XP_005260893.3:n.-246+468G>C
XM_011529364.1:c.384G>C	XP_011527666.1:p.Arg128=
XM_011529364.3:c.384G>C	XP_011527666.1:p.Arg128=
XM_011529365.1:c.384G>C	XP_011527667.1:p.Arg128=
XM_011529365.2:c.384G>C	XP_011527667.1:p.Arg128=
XM_017028079.2:c.-538+468G>C	XP_016883568.1:n.-538+468G>C
XM_024452002.1:c.-538+580G>C	XP_024307770.1:n.-538+580G>C
XR_002958533.1:n.545G>C