Canonical Allele Identifier: CA509566352

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889685G>A , CM000682.2:g.3889685G>A	GRCh38
NC_000020.10:g.3870332G>A , CM000682.1:g.3870332G>A	GRCh37
NC_000020.9:g.3818332G>A	NCBI36
NG_008131.3:g.5847G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.255G>A MANE Select	NP_001373322.1:p.Ser85=
ENST00000610179.7:c.255G>A MANE Select	ENSP00000477429.2:p.Ser85=
NM_001324191.1:c.-457G>A	NP_001311120.1:n.-457G>A
NM_001324191.2:c.-457G>A	NP_001311120.1:n.-457G>A
NM_001324192.1:c.585G>A	NP_001311121.1:p.Ser195=
NM_024960.4:c.-246+781G>A	NP_079236.3:n.-246+781G>A
NM_024960.5:c.-246+781G>A	NP_079236.3:n.-246+781G>A
NM_024960.6:c.-246+781G>A	NP_079236.3:n.-246+781G>A
NM_153638.2:c.585G>A	NP_705902.2:p.Ser195=
NM_153638.3:c.585G>A	NP_705902.2:p.Ser195=
NM_153638.4:c.585G>A	NP_705902.2:p.Ser195=
NR_136715.1:n.752G>A
NR_136715.2:n.299G>A
ENST00000316562.8:c.585G>A	ENSP00000313377.4:p.Ser195=
ENST00000316562.9:c.585G>A	ENSP00000313377.4:p.Ser195=
ENST00000336066.7:c.216G>A	ENSP00000477229.1:p.Ser72=
ENST00000336066.8:c.255G>A	ENSP00000477229.2:p.Ser85=
ENST00000495692.5:c.-538+669G>A	ENSP00000476745.1:n.-538+669G>A
ENST00000497424.5:c.-246+781G>A	ENSP00000417609.1:n.-246+781G>A
ENST00000610179.5:c.216G>A	ENSP00000477429.1:p.Ser72=
ENST00000610179.6:c.255G>A	ENSP00000477429.2:p.Ser85=
ENST00000643504.2:c.255G>A	ENSP00000495157.2:p.Ser85=
ENST00000646394.1:c.16G>A
XM_005260836.3:c.-246+669G>A	XP_005260893.3:n.-246+669G>A
XM_005260836.4:c.-246+669G>A	XP_005260893.3:n.-246+669G>A
XM_011529364.1:c.585G>A	XP_011527666.1:p.Ser195=
XM_011529364.3:c.585G>A	XP_011527666.1:p.Ser195=
XM_011529365.1:c.585G>A	XP_011527667.1:p.Ser195=
XM_011529365.2:c.585G>A	XP_011527667.1:p.Ser195=
XM_017028079.2:c.-538+669G>A	XP_016883568.1:n.-538+669G>A
XM_024452002.1:c.-538+781G>A	XP_024307770.1:n.-538+781G>A
XR_002958533.1:n.746G>A