Canonical Allele Identifier: CA408117743

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912577A>T , CM000682.2:g.3912577A>T	GRCh38
NC_000020.10:g.3893224A>T , CM000682.1:g.3893224A>T	GRCh37
NC_000020.9:g.3841224A>T	NCBI36
NG_008131.3:g.28739A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1025A>T MANE Select	NP_001373322.1:p.Asp342Val
ENST00000610179.7:c.1025A>T MANE Select	ENSP00000477429.2:p.Asp342Val
NM_001324191.1:c.482A>T	NP_001311120.1:p.Asp161Val
NM_001324191.2:c.482A>T	NP_001311120.1:p.Asp161Val
NM_001324193.1:c.47A>T	NP_001311122.1:p.Asp16Val
NM_001324193.2:c.47A>T	NP_001311122.1:p.Asp16Val
NM_024960.4:c.482A>T	NP_079236.3:p.Asp161Val
NM_024960.5:c.482A>T	NP_079236.3:p.Asp161Val
NM_024960.6:c.482A>T	NP_079236.3:p.Asp161Val
NM_153638.2:c.1355A>T	NP_705902.2:p.Asp452Val
NM_153638.3:c.1355A>T	NP_705902.2:p.Asp452Val
NM_153638.4:c.1355A>T	NP_705902.2:p.Asp452Val
NM_153640.2:c.482A>T	NP_705904.1:p.Asp161Val
NM_153640.3:c.482A>T	NP_705904.1:p.Asp161Val
NM_153640.4:c.482A>T	NP_705904.1:p.Asp161Val
NR_136715.1:n.1379A>T
NR_136715.2:n.926A>T
ENST00000316562.8:c.1355A>T	ENSP00000313377.4:p.Asp452Val
ENST00000316562.9:c.1355A>T	ENSP00000313377.4:p.Asp452Val
ENST00000336066.7:c.*366A>T	ENSP00000477229.1:n.*366A>T
ENST00000336066.8:c.*366A>T	ENSP00000477229.2:n.*366A>T
ENST00000464452.1:n.590A>T
ENST00000495692.5:c.47A>T	ENSP00000476745.1:p.Asp16Val
ENST00000497424.5:c.482A>T	ENSP00000417609.1:p.Asp161Val
ENST00000610179.5:c.986A>T	ENSP00000477429.1:p.Asp329Val
ENST00000610179.6:c.1025A>T	ENSP00000477429.2:p.Asp342Val
ENST00000621507.1:c.482A>T	ENSP00000481523.1:p.Asp161Val
ENST00000643504.2:c.*655A>T	ENSP00000495157.2:n.*655A>T
ENST00000646394.1:c.852A>T
XM_005260835.2:c.740A>T	XP_005260892.1:p.Asp247Val
XM_005260835.3:c.740A>T	XP_005260892.1:p.Asp247Val
XM_005260836.3:c.482A>T	XP_005260893.3:p.Asp161Val
XM_005260836.4:c.482A>T	XP_005260893.3:p.Asp161Val
XM_006723631.1:c.482A>T	XP_006723694.1:p.Asp161Val
XM_011529364.1:c.1235+1747A>T	XP_011527666.1:n.1235+1747A>T
XM_011529364.3:c.1235+1747A>T	XP_011527666.1:n.1235+1747A>T
XM_017028077.2:c.47A>T	XP_016883566.1:p.Asp16Val
XM_017028078.2:c.47A>T	XP_016883567.1:p.Asp16Val
XM_017028079.2:c.47A>T	XP_016883568.1:p.Asp16Val
XM_024452002.1:c.47A>T	XP_024307770.1:p.Asp16Val
XR_002958533.1:n.2143A>T