Canonical Allele Identifier: CA408119226

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3897578G>T (hg19) ; chr20:g.3916931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916931G>T , CM000682.2:g.3916931G>T	GRCh38
NC_000020.10:g.3897578G>T , CM000682.1:g.3897578G>T	GRCh37
NC_000020.9:g.3845578G>T	NCBI36
NG_008131.3:g.33093G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1087G>T MANE Select	ENSP00000477429.2:p.Gly363Ter
ENST00000316562.9:c.1417G>T	ENSP00000313377.4:p.Gly473Ter
ENST00000336066.8:c.*428G>T	ENSP00000477229.2:n.*428G>T
ENST00000610179.6:c.1087G>T	ENSP00000477429.2:p.Gly363Ter
ENST00000643504.2:c.*717G>T	ENSP00000495157.2:n.*717G>T
ENST00000646394.1:c.914G>T
ENST00000316562.8:c.1417G>T	ENSP00000313377.4:p.Gly473Ter
ENST00000336066.7:c.*428G>T	ENSP00000477229.1:n.*428G>T
ENST00000464452.1:n.652G>T
ENST00000495692.5:c.109G>T	ENSP00000476745.1:p.Gly37Ter
ENST00000497424.5:c.544G>T	ENSP00000417609.1:p.Gly182Ter
ENST00000610179.5:c.1048G>T	ENSP00000477429.1:p.Gly350Ter
ENST00000621507.1:c.544G>T	ENSP00000481523.1:p.Gly182Ter
NM_024960.4:c.544G>T	NP_079236.3:p.Gly182Ter
NM_153638.2:c.1417G>T	NP_705902.2:p.Gly473Ter
NM_153640.2:c.544G>T	NP_705904.1:p.Gly182Ter
XM_005260835.2:c.802G>T	XP_005260892.1:p.Gly268Ter
XM_005260836.3:c.544G>T	XP_005260893.3:p.Gly182Ter
XM_006723631.1:c.544G>T	XP_006723694.1:p.Gly182Ter
XM_011529364.1:c.1240G>T	XP_011527666.1:p.Gly414Ter
NM_001324191.1:c.544G>T	NP_001311120.1:p.Gly182Ter
NM_001324193.1:c.109G>T	NP_001311122.1:p.Gly37Ter
NM_024960.5:c.544G>T	NP_079236.3:p.Gly182Ter
NM_153638.3:c.1417G>T	NP_705902.2:p.Gly473Ter
NM_153640.3:c.544G>T	NP_705904.1:p.Gly182Ter
NR_136715.1:n.1441G>T
XM_005260835.3:c.802G>T	XP_005260892.1:p.Gly268Ter
XM_005260836.4:c.544G>T	XP_005260893.3:p.Gly182Ter
XM_011529364.3:c.1240G>T	XP_011527666.1:p.Gly414Ter
XM_017028077.2:c.109G>T	XP_016883566.1:p.Gly37Ter
XM_017028078.2:c.109G>T	XP_016883567.1:p.Gly37Ter
XM_017028079.2:c.109G>T	XP_016883568.1:p.Gly37Ter
XM_024452002.1:c.109G>T	XP_024307770.1:p.Gly37Ter
XR_002958533.1:n.2205G>T
NM_001324191.2:c.544G>T	NP_001311120.1:p.Gly182Ter
NM_001324193.2:c.109G>T	NP_001311122.1:p.Gly37Ter
NM_024960.6:c.544G>T	NP_079236.3:p.Gly182Ter
NR_136715.2:n.988G>T
NM_001386393.1:c.1087G>T MANE Select	NP_001373322.1:p.Gly363Ter
NM_153638.4:c.1417G>T	NP_705902.2:p.Gly473Ter
NM_153640.4:c.544G>T	NP_705904.1:p.Gly182Ter