Canonical Allele Identifier: CA408117563

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893190G>C (hg19) ; chr20:g.3912543G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912543G>C , CM000682.2:g.3912543G>C	GRCh38
NC_000020.10:g.3893190G>C , CM000682.1:g.3893190G>C	GRCh37
NC_000020.9:g.3841190G>C	NCBI36
NG_008131.3:g.28705G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.991G>C MANE Select	ENSP00000477429.2:p.Gly331Arg
ENST00000316562.9:c.1321G>C	ENSP00000313377.4:p.Gly441Arg
ENST00000336066.8:c.*332G>C	ENSP00000477229.2:n.*332G>C
ENST00000610179.6:c.991G>C	ENSP00000477429.2:p.Gly331Arg
ENST00000643504.2:c.*621G>C	ENSP00000495157.2:n.*621G>C
ENST00000646394.1:c.818G>C
ENST00000316562.8:c.1321G>C	ENSP00000313377.4:p.Gly441Arg
ENST00000336066.7:c.*332G>C	ENSP00000477229.1:n.*332G>C
ENST00000464452.1:n.556G>C
ENST00000495692.5:c.13G>C	ENSP00000476745.1:p.Gly5Arg
ENST00000497424.5:c.448G>C	ENSP00000417609.1:p.Gly150Arg
ENST00000610179.5:c.952G>C	ENSP00000477429.1:p.Gly318Arg
ENST00000621507.1:c.448G>C	ENSP00000481523.1:p.Gly150Arg
NM_024960.4:c.448G>C	NP_079236.3:p.Gly150Arg
NM_153638.2:c.1321G>C	NP_705902.2:p.Gly441Arg
NM_153640.2:c.448G>C	NP_705904.1:p.Gly150Arg
XM_005260835.2:c.706G>C	XP_005260892.1:p.Gly236Arg
XM_005260836.3:c.448G>C	XP_005260893.3:p.Gly150Arg
XM_006723631.1:c.448G>C	XP_006723694.1:p.Gly150Arg
XM_011529364.1:c.1235+1713G>C	XP_011527666.1:n.1235+1713G>C
NM_001324191.1:c.448G>C	NP_001311120.1:p.Gly150Arg
NM_001324193.1:c.13G>C	NP_001311122.1:p.Gly5Arg
NM_024960.5:c.448G>C	NP_079236.3:p.Gly150Arg
NM_153638.3:c.1321G>C	NP_705902.2:p.Gly441Arg
NM_153640.3:c.448G>C	NP_705904.1:p.Gly150Arg
NR_136715.1:n.1345G>C
XM_005260835.3:c.706G>C	XP_005260892.1:p.Gly236Arg
XM_005260836.4:c.448G>C	XP_005260893.3:p.Gly150Arg
XM_011529364.3:c.1235+1713G>C	XP_011527666.1:n.1235+1713G>C
XM_017028077.2:c.13G>C	XP_016883566.1:p.Gly5Arg
XM_017028078.2:c.13G>C	XP_016883567.1:p.Gly5Arg
XM_017028079.2:c.13G>C	XP_016883568.1:p.Gly5Arg
XM_024452002.1:c.13G>C	XP_024307770.1:p.Gly5Arg
XR_002958533.1:n.2109G>C
NM_001324191.2:c.448G>C	NP_001311120.1:p.Gly150Arg
NM_001324193.2:c.13G>C	NP_001311122.1:p.Gly5Arg
NM_024960.6:c.448G>C	NP_079236.3:p.Gly150Arg
NR_136715.2:n.892G>C
NM_001386393.1:c.991G>C MANE Select	NP_001373322.1:p.Gly331Arg
NM_153638.4:c.1321G>C	NP_705902.2:p.Gly441Arg
NM_153640.4:c.448G>C	NP_705904.1:p.Gly150Arg