Canonical Allele Identifier: CA408119348

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916983C>T , CM000682.2:g.3916983C>T	GRCh38
NC_000020.10:g.3897630C>T , CM000682.1:g.3897630C>T	GRCh37
NC_000020.9:g.3845630C>T	NCBI36
NG_008131.3:g.33145C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1139C>T MANE Select	NP_001373322.1:p.Ala380Val
ENST00000610179.7:c.1139C>T MANE Select	ENSP00000477429.2:p.Ala380Val
NM_001324191.1:c.596C>T	NP_001311120.1:p.Ala199Val
NM_001324191.2:c.596C>T	NP_001311120.1:p.Ala199Val
NM_001324193.1:c.161C>T	NP_001311122.1:p.Ala54Val
NM_001324193.2:c.161C>T	NP_001311122.1:p.Ala54Val
NM_024960.4:c.596C>T	NP_079236.3:p.Ala199Val
NM_024960.5:c.596C>T	NP_079236.3:p.Ala199Val
NM_024960.6:c.596C>T	NP_079236.3:p.Ala199Val
NM_153638.2:c.1469C>T	NP_705902.2:p.Ala490Val
NM_153638.3:c.1469C>T	NP_705902.2:p.Ala490Val
NM_153638.4:c.1469C>T	NP_705902.2:p.Ala490Val
NM_153640.2:c.596C>T	NP_705904.1:p.Ala199Val
NM_153640.3:c.596C>T	NP_705904.1:p.Ala199Val
NM_153640.4:c.596C>T	NP_705904.1:p.Ala199Val
NR_136715.1:n.1493C>T
NR_136715.2:n.1040C>T
ENST00000316562.8:c.1469C>T	ENSP00000313377.4:p.Ala490Val
ENST00000316562.9:c.1469C>T	ENSP00000313377.4:p.Ala490Val
ENST00000336066.7:c.*480C>T	ENSP00000477229.1:n.*480C>T
ENST00000336066.8:c.*480C>T	ENSP00000477229.2:n.*480C>T
ENST00000464452.1:n.704C>T
ENST00000495692.5:c.161C>T	ENSP00000476745.1:p.Ala54Val
ENST00000497424.5:c.596C>T	ENSP00000417609.1:p.Ala199Val
ENST00000610179.5:c.1100C>T	ENSP00000477429.1:p.Ala367Val
ENST00000610179.6:c.1139C>T	ENSP00000477429.2:p.Ala380Val
ENST00000621507.1:c.596C>T	ENSP00000481523.1:p.Ala199Val
ENST00000643504.2:c.*769C>T	ENSP00000495157.2:n.*769C>T
ENST00000646394.1:c.966C>T
XM_005260835.2:c.854C>T	XP_005260892.1:p.Ala285Val
XM_005260835.3:c.854C>T	XP_005260892.1:p.Ala285Val
XM_005260836.3:c.596C>T	XP_005260893.3:p.Ala199Val
XM_005260836.4:c.596C>T	XP_005260893.3:p.Ala199Val
XM_006723631.1:c.596C>T	XP_006723694.1:p.Ala199Val
XM_011529364.1:c.1292C>T	XP_011527666.1:p.Ala431Val
XM_011529364.3:c.1292C>T	XP_011527666.1:p.Ala431Val
XM_017028077.2:c.161C>T	XP_016883566.1:p.Ala54Val
XM_017028078.2:c.161C>T	XP_016883567.1:p.Ala54Val
XM_017028079.2:c.161C>T	XP_016883568.1:p.Ala54Val
XM_024452002.1:c.161C>T	XP_024307770.1:p.Ala54Val
XR_002958533.1:n.2257C>T