Canonical Allele Identifier: CA509423179

Gene: PANK2

Linked Data

• ClinVar Variation Id: 1156595
• ClinVar RCV Id: RCV001499365
• dbSNP Id: rs2146872723
• MyVariant Identifiers: chr20:g.3893201C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912554C>G , CM000682.2:g.3912554C>G	GRCh38
NC_000020.10:g.3893201C>G , CM000682.1:g.3893201C>G	GRCh37
NC_000020.9:g.3841201C>G	NCBI36
NG_008131.3:g.28716C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1002C>G MANE Select	ENSP00000477429.2:p.Thr334=
ENST00000316562.9:c.1332C>G	ENSP00000313377.4:p.Thr444=
ENST00000336066.8:c.*343C>G	ENSP00000477229.2:n.*343C>G
ENST00000610179.6:c.1002C>G	ENSP00000477429.2:p.Thr334=
ENST00000643504.2:c.*632C>G	ENSP00000495157.2:n.*632C>G
ENST00000646394.1:c.829C>G
ENST00000316562.8:c.1332C>G	ENSP00000313377.4:p.Thr444=
ENST00000336066.7:c.*343C>G	ENSP00000477229.1:n.*343C>G
ENST00000464452.1:n.567C>G
ENST00000495692.5:c.24C>G	ENSP00000476745.1:p.Thr8=
ENST00000497424.5:c.459C>G	ENSP00000417609.1:p.Thr153=
ENST00000610179.5:c.963C>G	ENSP00000477429.1:p.Thr321=
ENST00000621507.1:c.459C>G	ENSP00000481523.1:p.Thr153=
NM_024960.4:c.459C>G	NP_079236.3:p.Thr153=
NM_153638.2:c.1332C>G	NP_705902.2:p.Thr444=
NM_153640.2:c.459C>G	NP_705904.1:p.Thr153=
XM_005260835.2:c.717C>G	XP_005260892.1:p.Thr239=
XM_005260836.3:c.459C>G	XP_005260893.3:p.Thr153=
XM_006723631.1:c.459C>G	XP_006723694.1:p.Thr153=
XM_011529364.1:c.1235+1724C>G	XP_011527666.1:n.1235+1724C>G
NM_001324191.1:c.459C>G	NP_001311120.1:p.Thr153=
NM_001324193.1:c.24C>G	NP_001311122.1:p.Thr8=
NM_024960.5:c.459C>G	NP_079236.3:p.Thr153=
NM_153638.3:c.1332C>G	NP_705902.2:p.Thr444=
NM_153640.3:c.459C>G	NP_705904.1:p.Thr153=
NR_136715.1:n.1356C>G
XM_005260835.3:c.717C>G	XP_005260892.1:p.Thr239=
XM_005260836.4:c.459C>G	XP_005260893.3:p.Thr153=
XM_011529364.3:c.1235+1724C>G	XP_011527666.1:n.1235+1724C>G
XM_017028077.2:c.24C>G	XP_016883566.1:p.Thr8=
XM_017028078.2:c.24C>G	XP_016883567.1:p.Thr8=
XM_017028079.2:c.24C>G	XP_016883568.1:p.Thr8=
XM_024452002.1:c.24C>G	XP_024307770.1:p.Thr8=
XR_002958533.1:n.2120C>G
NM_001324191.2:c.459C>G	NP_001311120.1:p.Thr153=
NM_001324193.2:c.24C>G	NP_001311122.1:p.Thr8=
NM_024960.6:c.459C>G	NP_079236.3:p.Thr153=
NR_136715.2:n.903C>G
NM_001386393.1:c.1002C>G MANE Select	NP_001373322.1:p.Thr334=
NM_153638.4:c.1332C>G	NP_705902.2:p.Thr444=
NM_153640.4:c.459C>G	NP_705904.1:p.Thr153=