Canonical Allele Identifier: CA2346786023

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889670C= , CM000682.2:g.3889670C=	GRCh38
NC_000020.10:g.3870317C= , CM000682.1:g.3870317C=	GRCh37
NC_000020.9:g.3818317C=	NCBI36
NG_008131.3:g.5832C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.240C= MANE Select	NP_001373322.1:p.Tyr80=
ENST00000610179.7:c.240C= MANE Select	ENSP00000477429.2:p.Tyr80=
NM_001324191.1:c.-472C=	NP_001311120.1:n.-472C=
NM_001324191.2:c.-472C=	NP_001311120.1:n.-472C=
NM_001324192.1:c.570C=	NP_001311121.1:p.Tyr190=
NM_024960.4:c.-246+766C=	NP_079236.3:n.-246+766C=
NM_024960.5:c.-246+766C=	NP_079236.3:n.-246+766C=
NM_024960.6:c.-246+766C=	NP_079236.3:n.-246+766C=
NM_153638.2:c.570C=	NP_705902.2:p.Tyr190=
NM_153638.3:c.570C=	NP_705902.2:p.Tyr190=
NM_153638.4:c.570C=	NP_705902.2:p.Tyr190=
NR_136715.1:n.737C=
NR_136715.2:n.284C=
ENST00000316562.8:c.570C=	ENSP00000313377.4:p.Tyr190=
ENST00000316562.9:c.570C=	ENSP00000313377.4:p.Tyr190=
ENST00000336066.7:c.201C=	ENSP00000477229.1:p.Tyr67=
ENST00000336066.8:c.240C=	ENSP00000477229.2:p.Tyr80=
ENST00000495692.5:c.-538+654C=	ENSP00000476745.1:n.-538+654C=
ENST00000497424.5:c.-246+766C=	ENSP00000417609.1:n.-246+766C=
ENST00000610179.5:c.201C=	ENSP00000477429.1:p.Tyr67=
ENST00000610179.6:c.240C=	ENSP00000477429.2:p.Tyr80=
ENST00000643504.2:c.240C=	ENSP00000495157.2:p.Tyr80=
ENST00000646394.1:c.1C=
XM_005260836.3:c.-246+654C=	XP_005260893.3:n.-246+654C=
XM_005260836.4:c.-246+654C=	XP_005260893.3:n.-246+654C=
XM_011529364.1:c.570C=	XP_011527666.1:p.Tyr190=
XM_011529364.3:c.570C=	XP_011527666.1:p.Tyr190=
XM_011529365.1:c.570C=	XP_011527667.1:p.Tyr190=
XM_011529365.2:c.570C=	XP_011527667.1:p.Tyr190=
XM_017028079.2:c.-538+654C=	XP_016883568.1:n.-538+654C=
XM_024452002.1:c.-538+766C=	XP_024307770.1:n.-538+766C=
XR_002958533.1:n.731C=