Canonical Allele Identifier: CA408117597

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893197G>T (hg19) ; chr20:g.3912550G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912550G>T , CM000682.2:g.3912550G>T	GRCh38
NC_000020.10:g.3893197G>T , CM000682.1:g.3893197G>T	GRCh37
NC_000020.9:g.3841197G>T	NCBI36
NG_008131.3:g.28712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.998G>T MANE Select	ENSP00000477429.2:p.Ser333Ile
ENST00000316562.9:c.1328G>T	ENSP00000313377.4:p.Ser443Ile
ENST00000336066.8:c.*339G>T	ENSP00000477229.2:n.*339G>T
ENST00000610179.6:c.998G>T	ENSP00000477429.2:p.Ser333Ile
ENST00000643504.2:c.*628G>T	ENSP00000495157.2:n.*628G>T
ENST00000646394.1:c.825G>T
ENST00000316562.8:c.1328G>T	ENSP00000313377.4:p.Ser443Ile
ENST00000336066.7:c.*339G>T	ENSP00000477229.1:n.*339G>T
ENST00000464452.1:n.563G>T
ENST00000495692.5:c.20G>T	ENSP00000476745.1:p.Ser7Ile
ENST00000497424.5:c.455G>T	ENSP00000417609.1:p.Ser152Ile
ENST00000610179.5:c.959G>T	ENSP00000477429.1:p.Ser320Ile
ENST00000621507.1:c.455G>T	ENSP00000481523.1:p.Ser152Ile
NM_024960.4:c.455G>T	NP_079236.3:p.Ser152Ile
NM_153638.2:c.1328G>T	NP_705902.2:p.Ser443Ile
NM_153640.2:c.455G>T	NP_705904.1:p.Ser152Ile
XM_005260835.2:c.713G>T	XP_005260892.1:p.Ser238Ile
XM_005260836.3:c.455G>T	XP_005260893.3:p.Ser152Ile
XM_006723631.1:c.455G>T	XP_006723694.1:p.Ser152Ile
XM_011529364.1:c.1235+1720G>T	XP_011527666.1:n.1235+1720G>T
NM_001324191.1:c.455G>T	NP_001311120.1:p.Ser152Ile
NM_001324193.1:c.20G>T	NP_001311122.1:p.Ser7Ile
NM_024960.5:c.455G>T	NP_079236.3:p.Ser152Ile
NM_153638.3:c.1328G>T	NP_705902.2:p.Ser443Ile
NM_153640.3:c.455G>T	NP_705904.1:p.Ser152Ile
NR_136715.1:n.1352G>T
XM_005260835.3:c.713G>T	XP_005260892.1:p.Ser238Ile
XM_005260836.4:c.455G>T	XP_005260893.3:p.Ser152Ile
XM_011529364.3:c.1235+1720G>T	XP_011527666.1:n.1235+1720G>T
XM_017028077.2:c.20G>T	XP_016883566.1:p.Ser7Ile
XM_017028078.2:c.20G>T	XP_016883567.1:p.Ser7Ile
XM_017028079.2:c.20G>T	XP_016883568.1:p.Ser7Ile
XM_024452002.1:c.20G>T	XP_024307770.1:p.Ser7Ile
XR_002958533.1:n.2116G>T
NM_001324191.2:c.455G>T	NP_001311120.1:p.Ser152Ile
NM_001324193.2:c.20G>T	NP_001311122.1:p.Ser7Ile
NM_024960.6:c.455G>T	NP_079236.3:p.Ser152Ile
NR_136715.2:n.899G>T
NM_001386393.1:c.998G>T MANE Select	NP_001373322.1:p.Ser333Ile
NM_153638.4:c.1328G>T	NP_705902.2:p.Ser443Ile
NM_153640.4:c.455G>T	NP_705904.1:p.Ser152Ile