Canonical Allele Identifier: CA408117607

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893199A>T (hg19) ; chr20:g.3912552A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912552A>T , CM000682.2:g.3912552A>T	GRCh38
NC_000020.10:g.3893199A>T , CM000682.1:g.3893199A>T	GRCh37
NC_000020.9:g.3841199A>T	NCBI36
NG_008131.3:g.28714A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1000A>T MANE Select	ENSP00000477429.2:p.Thr334Ser
ENST00000316562.9:c.1330A>T	ENSP00000313377.4:p.Thr444Ser
ENST00000336066.8:c.*341A>T	ENSP00000477229.2:n.*341A>T
ENST00000610179.6:c.1000A>T	ENSP00000477429.2:p.Thr334Ser
ENST00000643504.2:c.*630A>T	ENSP00000495157.2:n.*630A>T
ENST00000646394.1:c.827A>T
ENST00000316562.8:c.1330A>T	ENSP00000313377.4:p.Thr444Ser
ENST00000336066.7:c.*341A>T	ENSP00000477229.1:n.*341A>T
ENST00000464452.1:n.565A>T
ENST00000495692.5:c.22A>T	ENSP00000476745.1:p.Thr8Ser
ENST00000497424.5:c.457A>T	ENSP00000417609.1:p.Thr153Ser
ENST00000610179.5:c.961A>T	ENSP00000477429.1:p.Thr321Ser
ENST00000621507.1:c.457A>T	ENSP00000481523.1:p.Thr153Ser
NM_024960.4:c.457A>T	NP_079236.3:p.Thr153Ser
NM_153638.2:c.1330A>T	NP_705902.2:p.Thr444Ser
NM_153640.2:c.457A>T	NP_705904.1:p.Thr153Ser
XM_005260835.2:c.715A>T	XP_005260892.1:p.Thr239Ser
XM_005260836.3:c.457A>T	XP_005260893.3:p.Thr153Ser
XM_006723631.1:c.457A>T	XP_006723694.1:p.Thr153Ser
XM_011529364.1:c.1235+1722A>T	XP_011527666.1:n.1235+1722A>T
NM_001324191.1:c.457A>T	NP_001311120.1:p.Thr153Ser
NM_001324193.1:c.22A>T	NP_001311122.1:p.Thr8Ser
NM_024960.5:c.457A>T	NP_079236.3:p.Thr153Ser
NM_153638.3:c.1330A>T	NP_705902.2:p.Thr444Ser
NM_153640.3:c.457A>T	NP_705904.1:p.Thr153Ser
NR_136715.1:n.1354A>T
XM_005260835.3:c.715A>T	XP_005260892.1:p.Thr239Ser
XM_005260836.4:c.457A>T	XP_005260893.3:p.Thr153Ser
XM_011529364.3:c.1235+1722A>T	XP_011527666.1:n.1235+1722A>T
XM_017028077.2:c.22A>T	XP_016883566.1:p.Thr8Ser
XM_017028078.2:c.22A>T	XP_016883567.1:p.Thr8Ser
XM_017028079.2:c.22A>T	XP_016883568.1:p.Thr8Ser
XM_024452002.1:c.22A>T	XP_024307770.1:p.Thr8Ser
XR_002958533.1:n.2118A>T
NM_001324191.2:c.457A>T	NP_001311120.1:p.Thr153Ser
NM_001324193.2:c.22A>T	NP_001311122.1:p.Thr8Ser
NM_024960.6:c.457A>T	NP_079236.3:p.Thr153Ser
NR_136715.2:n.901A>T
NM_001386393.1:c.1000A>T MANE Select	NP_001373322.1:p.Thr334Ser
NM_153638.4:c.1330A>T	NP_705902.2:p.Thr444Ser
NM_153640.4:c.457A>T	NP_705904.1:p.Thr153Ser