Canonical Allele Identifier: CA253209

Gene: PANK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.240C>G MANE Select	ENSP00000477429.2:p.Tyr80Ter
ENST00000316562.9:c.570C>G	ENSP00000313377.4:p.Tyr190Ter
ENST00000336066.8:c.240C>G	ENSP00000477229.2:p.Tyr80Ter
ENST00000610179.6:c.240C>G	ENSP00000477429.2:p.Tyr80Ter
ENST00000643504.2:c.240C>G	ENSP00000495157.2:p.Tyr80Ter
ENST00000646394.1:c.1C>G
ENST00000316562.8:c.570C>G	ENSP00000313377.4:p.Tyr190Ter
ENST00000336066.7:c.201C>G	ENSP00000477229.1:p.Tyr67Ter
ENST00000495692.5:c.-538+654C>G	ENSP00000476745.1:n.-538+654C>G
ENST00000497424.5:c.-246+766C>G	ENSP00000417609.1:n.-246+766C>G
ENST00000610179.5:c.201C>G	ENSP00000477429.1:p.Tyr67Ter
NM_024960.4:c.-246+766C>G	NP_079236.3:n.-246+766C>G
NM_153638.2:c.570C>G	NP_705902.2:p.Tyr190Ter
XM_005260836.3:c.-246+654C>G	XP_005260893.3:n.-246+654C>G
XM_011529364.1:c.570C>G	XP_011527666.1:p.Tyr190Ter
XM_011529365.1:c.570C>G	XP_011527667.1:p.Tyr190Ter
NM_001324191.1:c.-472C>G	NP_001311120.1:n.-472C>G
NM_001324192.1:c.570C>G	NP_001311121.1:p.Tyr190Ter
NM_024960.5:c.-246+766C>G	NP_079236.3:n.-246+766C>G
NM_153638.3:c.570C>G	NP_705902.2:p.Tyr190Ter
NR_136715.1:n.737C>G
XM_005260836.4:c.-246+654C>G	XP_005260893.3:n.-246+654C>G
XM_011529364.3:c.570C>G	XP_011527666.1:p.Tyr190Ter
XM_011529365.2:c.570C>G	XP_011527667.1:p.Tyr190Ter
XM_017028079.2:c.-538+654C>G	XP_016883568.1:n.-538+654C>G
XM_024452002.1:c.-538+766C>G	XP_024307770.1:n.-538+766C>G
XR_002958533.1:n.731C>G
NM_001324191.2:c.-472C>G	NP_001311120.1:n.-472C>G
NM_024960.6:c.-246+766C>G	NP_079236.3:n.-246+766C>G
NR_136715.2:n.284C>G
NM_001386393.1:c.240C>G MANE Select	NP_001373322.1:p.Tyr80Ter
NM_153638.4:c.570C>G	NP_705902.2:p.Tyr190Ter