Canonical Allele Identifier: CA408120575

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3918741A>G , CM000682.2:g.3918741A>G	GRCh38
NC_000020.10:g.3899388A>G , CM000682.1:g.3899388A>G	GRCh37
NC_000020.9:g.3847388A>G	NCBI36
NG_008131.3:g.34903A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.1277A>G MANE Select	NP_001373322.1:p.Tyr426Cys
ENST00000610179.7:c.1277A>G MANE Select	ENSP00000477429.2:p.Tyr426Cys
NM_001324191.1:c.734A>G	NP_001311120.1:p.Tyr245Cys
NM_001324191.2:c.734A>G	NP_001311120.1:p.Tyr245Cys
NM_001324193.1:c.299A>G	NP_001311122.1:p.Tyr100Cys
NM_001324193.2:c.299A>G	NP_001311122.1:p.Tyr100Cys
NM_024960.4:c.734A>G	NP_079236.3:p.Tyr245Cys
NM_024960.5:c.734A>G	NP_079236.3:p.Tyr245Cys
NM_024960.6:c.734A>G	NP_079236.3:p.Tyr245Cys
NM_153638.2:c.1607A>G	NP_705902.2:p.Tyr536Cys
NM_153638.3:c.1607A>G	NP_705902.2:p.Tyr536Cys
NM_153638.4:c.1607A>G	NP_705902.2:p.Tyr536Cys
NM_153640.2:c.734A>G	NP_705904.1:p.Tyr245Cys
NM_153640.3:c.734A>G	NP_705904.1:p.Tyr245Cys
NM_153640.4:c.734A>G	NP_705904.1:p.Tyr245Cys
NR_136715.1:n.1631A>G
NR_136715.2:n.1178A>G
ENST00000316562.8:c.1607A>G	ENSP00000313377.4:p.Tyr536Cys
ENST00000316562.9:c.1607A>G	ENSP00000313377.4:p.Tyr536Cys
ENST00000336066.7:c.*618A>G	ENSP00000477229.1:n.*618A>G
ENST00000336066.8:c.*618A>G	ENSP00000477229.2:n.*618A>G
ENST00000495692.5:c.299A>G	ENSP00000476745.1:p.Tyr100Cys
ENST00000497424.5:c.734A>G	ENSP00000417609.1:p.Tyr245Cys
ENST00000610179.5:c.1238A>G	ENSP00000477429.1:p.Tyr413Cys
ENST00000610179.6:c.1277A>G	ENSP00000477429.2:p.Tyr426Cys
ENST00000621507.1:c.734A>G	ENSP00000481523.1:p.Tyr245Cys
ENST00000643504.2:c.*907A>G	ENSP00000495157.2:n.*907A>G
ENST00000646394.1:c.1104A>G
XM_005260835.2:c.992A>G	XP_005260892.1:p.Tyr331Cys
XM_005260835.3:c.992A>G	XP_005260892.1:p.Tyr331Cys
XM_005260836.3:c.734A>G	XP_005260893.3:p.Tyr245Cys
XM_005260836.4:c.734A>G	XP_005260893.3:p.Tyr245Cys
XM_006723631.1:c.734A>G	XP_006723694.1:p.Tyr245Cys
XM_011529364.1:c.1430A>G	XP_011527666.1:p.Tyr477Cys
XM_011529364.3:c.1430A>G	XP_011527666.1:p.Tyr477Cys
XM_017028077.2:c.299A>G	XP_016883566.1:p.Tyr100Cys
XM_017028078.2:c.299A>G	XP_016883567.1:p.Tyr100Cys
XM_017028079.2:c.299A>G	XP_016883568.1:p.Tyr100Cys
XM_024452002.1:c.299A>G	XP_024307770.1:p.Tyr100Cys
XR_002958533.1:n.2395A>G