Canonical Allele Identifier: CA408117606

Gene: PANK2

Linked Data

• gnomAD v4: 20-3912552-A-G
• MyVariant Identifiers: chr20:g.3893199A>G (hg19) ; chr20:g.3912552A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1000A>G MANE Select	ENSP00000477429.2:p.Thr334Ala
ENST00000316562.9:c.1330A>G	ENSP00000313377.4:p.Thr444Ala
ENST00000336066.8:c.*341A>G	ENSP00000477229.2:n.*341A>G
ENST00000610179.6:c.1000A>G	ENSP00000477429.2:p.Thr334Ala
ENST00000643504.2:c.*630A>G	ENSP00000495157.2:n.*630A>G
ENST00000646394.1:c.827A>G
ENST00000316562.8:c.1330A>G	ENSP00000313377.4:p.Thr444Ala
ENST00000336066.7:c.*341A>G	ENSP00000477229.1:n.*341A>G
ENST00000464452.1:n.565A>G
ENST00000495692.5:c.22A>G	ENSP00000476745.1:p.Thr8Ala
ENST00000497424.5:c.457A>G	ENSP00000417609.1:p.Thr153Ala
ENST00000610179.5:c.961A>G	ENSP00000477429.1:p.Thr321Ala
ENST00000621507.1:c.457A>G	ENSP00000481523.1:p.Thr153Ala
NM_024960.4:c.457A>G	NP_079236.3:p.Thr153Ala
NM_153638.2:c.1330A>G	NP_705902.2:p.Thr444Ala
NM_153640.2:c.457A>G	NP_705904.1:p.Thr153Ala
XM_005260835.2:c.715A>G	XP_005260892.1:p.Thr239Ala
XM_005260836.3:c.457A>G	XP_005260893.3:p.Thr153Ala
XM_006723631.1:c.457A>G	XP_006723694.1:p.Thr153Ala
XM_011529364.1:c.1235+1722A>G	XP_011527666.1:n.1235+1722A>G
NM_001324191.1:c.457A>G	NP_001311120.1:p.Thr153Ala
NM_001324193.1:c.22A>G	NP_001311122.1:p.Thr8Ala
NM_024960.5:c.457A>G	NP_079236.3:p.Thr153Ala
NM_153638.3:c.1330A>G	NP_705902.2:p.Thr444Ala
NM_153640.3:c.457A>G	NP_705904.1:p.Thr153Ala
NR_136715.1:n.1354A>G
XM_005260835.3:c.715A>G	XP_005260892.1:p.Thr239Ala
XM_005260836.4:c.457A>G	XP_005260893.3:p.Thr153Ala
XM_011529364.3:c.1235+1722A>G	XP_011527666.1:n.1235+1722A>G
XM_017028077.2:c.22A>G	XP_016883566.1:p.Thr8Ala
XM_017028078.2:c.22A>G	XP_016883567.1:p.Thr8Ala
XM_017028079.2:c.22A>G	XP_016883568.1:p.Thr8Ala
XM_024452002.1:c.22A>G	XP_024307770.1:p.Thr8Ala
XR_002958533.1:n.2118A>G
NM_001324191.2:c.457A>G	NP_001311120.1:p.Thr153Ala
NM_001324193.2:c.22A>G	NP_001311122.1:p.Thr8Ala
NM_024960.6:c.457A>G	NP_079236.3:p.Thr153Ala
NR_136715.2:n.901A>G
NM_001386393.1:c.1000A>G MANE Select	NP_001373322.1:p.Thr334Ala
NM_153638.4:c.1330A>G	NP_705902.2:p.Thr444Ala
NM_153640.4:c.457A>G	NP_705904.1:p.Thr153Ala