Canonical Allele Identifier: CA9750457

Gene: PANK2 PANK2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889134C>T , CM000682.2:g.3889134C>T	GRCh38
NC_000020.10:g.3869781C>T , CM000682.1:g.3869781C>T	GRCh37
NC_000020.9:g.3817781C>T	NCBI36
NG_008131.3:g.5296C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001324191.1:c.-1008C>T (PANK2)	NP_001311120.1:n.-1008C>T
NM_001324192.1:c.34C>T (PANK2)	NP_001311121.1:p.His12Tyr
NM_024960.4:c.-246+230C>T (PANK2)	NP_079236.3:n.-246+230C>T
NM_024960.5:c.-246+230C>T (PANK2)	NP_079236.3:n.-246+230C>T
NM_024960.6:c.-246+230C>T (PANK2)	NP_079236.3:n.-246+230C>T
NM_153638.2:c.34C>T (PANK2)	NP_705902.2:p.His12Tyr
NM_153638.3:c.34C>T (PANK2)	NP_705902.2:p.His12Tyr
NM_153638.4:c.34C>T (PANK2)	NP_705902.2:p.His12Tyr
NR_136715.1:n.201C>T (PANK2)
ENST00000316562.8:c.34C>T (PANK2)	ENSP00000313377.4:p.His12Tyr
ENST00000316562.9:c.34C>T (PANK2)	ENSP00000313377.4:p.His12Tyr
ENST00000495692.5:c.-538+118C>T (PANK2)	ENSP00000476745.1:n.-538+118C>T
ENST00000497424.5:c.-246+230C>T (PANK2)	ENSP00000417609.1:n.-246+230C>T
XM_005260836.3:c.-246+118C>T (PANK2)	XP_005260893.3:n.-246+118C>T
XM_005260836.4:c.-246+118C>T (PANK2)	XP_005260893.3:n.-246+118C>T
XM_011529364.1:c.34C>T (PANK2)	XP_011527666.1:p.His12Tyr
XM_011529364.3:c.34C>T (PANK2)	XP_011527666.1:p.His12Tyr
XM_011529365.1:c.34C>T (PANK2)	XP_011527667.1:p.His12Tyr
XM_011529365.2:c.34C>T (PANK2)	XP_011527667.1:p.His12Tyr
XM_017028079.2:c.-538+118C>T (PANK2)	XP_016883568.1:n.-538+118C>T
XM_024452002.1:c.-538+230C>T (PANK2)	XP_024307770.1:n.-538+230C>T
XR_001754478.2:n.52G>A (PANK2-AS1)
XR_002958533.1:n.195C>T (PANK2)