Canonical Allele Identifier: CA408119285

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916956G>C , CM000682.2:g.3916956G>C	GRCh38
NC_000020.10:g.3897603G>C , CM000682.1:g.3897603G>C	GRCh37
NC_000020.9:g.3845603G>C	NCBI36
NG_008131.3:g.33118G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1112G>C MANE Select	NP_001373322.1:p.Arg371Pro
ENST00000610179.7:c.1112G>C MANE Select	ENSP00000477429.2:p.Arg371Pro
NM_001324191.1:c.569G>C	NP_001311120.1:p.Arg190Pro
NM_001324191.2:c.569G>C	NP_001311120.1:p.Arg190Pro
NM_001324193.1:c.134G>C	NP_001311122.1:p.Arg45Pro
NM_001324193.2:c.134G>C	NP_001311122.1:p.Arg45Pro
NM_024960.4:c.569G>C	NP_079236.3:p.Arg190Pro
NM_024960.5:c.569G>C	NP_079236.3:p.Arg190Pro
NM_024960.6:c.569G>C	NP_079236.3:p.Arg190Pro
NM_153638.2:c.1442G>C	NP_705902.2:p.Arg481Pro
NM_153638.3:c.1442G>C	NP_705902.2:p.Arg481Pro
NM_153638.4:c.1442G>C	NP_705902.2:p.Arg481Pro
NM_153640.2:c.569G>C	NP_705904.1:p.Arg190Pro
NM_153640.3:c.569G>C	NP_705904.1:p.Arg190Pro
NM_153640.4:c.569G>C	NP_705904.1:p.Arg190Pro
NR_136715.1:n.1466G>C
NR_136715.2:n.1013G>C
ENST00000316562.8:c.1442G>C	ENSP00000313377.4:p.Arg481Pro
ENST00000316562.9:c.1442G>C	ENSP00000313377.4:p.Arg481Pro
ENST00000336066.7:c.*453G>C	ENSP00000477229.1:n.*453G>C
ENST00000336066.8:c.*453G>C	ENSP00000477229.2:n.*453G>C
ENST00000464452.1:n.677G>C
ENST00000495692.5:c.134G>C	ENSP00000476745.1:p.Arg45Pro
ENST00000497424.5:c.569G>C	ENSP00000417609.1:p.Arg190Pro
ENST00000610179.5:c.1073G>C	ENSP00000477429.1:p.Arg358Pro
ENST00000610179.6:c.1112G>C	ENSP00000477429.2:p.Arg371Pro
ENST00000621507.1:c.569G>C	ENSP00000481523.1:p.Arg190Pro
ENST00000643504.2:c.*742G>C	ENSP00000495157.2:n.*742G>C
ENST00000646394.1:c.939G>C
XM_005260835.2:c.827G>C	XP_005260892.1:p.Arg276Pro
XM_005260835.3:c.827G>C	XP_005260892.1:p.Arg276Pro
XM_005260836.3:c.569G>C	XP_005260893.3:p.Arg190Pro
XM_005260836.4:c.569G>C	XP_005260893.3:p.Arg190Pro
XM_006723631.1:c.569G>C	XP_006723694.1:p.Arg190Pro
XM_011529364.1:c.1265G>C	XP_011527666.1:p.Arg422Pro
XM_011529364.3:c.1265G>C	XP_011527666.1:p.Arg422Pro
XM_017028077.2:c.134G>C	XP_016883566.1:p.Arg45Pro
XM_017028078.2:c.134G>C	XP_016883567.1:p.Arg45Pro
XM_017028079.2:c.134G>C	XP_016883568.1:p.Arg45Pro
XM_024452002.1:c.134G>C	XP_024307770.1:p.Arg45Pro
XR_002958533.1:n.2230G>C