Canonical Allele Identifier: CA408117341

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893142C>A (hg19) ; chr20:g.3912495C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912495C>A , CM000682.2:g.3912495C>A	GRCh38
NC_000020.10:g.3893142C>A , CM000682.1:g.3893142C>A	GRCh37
NC_000020.9:g.3841142C>A	NCBI36
NG_008131.3:g.28657C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.943C>A MANE Select	ENSP00000477429.2:p.Leu315Ile
ENST00000316562.9:c.1273C>A	ENSP00000313377.4:p.Leu425Ile
ENST00000336066.8:c.*284C>A	ENSP00000477229.2:n.*284C>A
ENST00000610179.6:c.943C>A	ENSP00000477429.2:p.Leu315Ile
ENST00000643504.2:c.*573C>A	ENSP00000495157.2:n.*573C>A
ENST00000646394.1:c.770C>A
ENST00000316562.8:c.1273C>A	ENSP00000313377.4:p.Leu425Ile
ENST00000336066.7:c.*284C>A	ENSP00000477229.1:n.*284C>A
ENST00000464452.1:n.508C>A
ENST00000495692.5:c.-36C>A	ENSP00000476745.1:n.-36C>A
ENST00000497424.5:c.400C>A	ENSP00000417609.1:p.Leu134Ile
ENST00000610179.5:c.904C>A	ENSP00000477429.1:p.Leu302Ile
ENST00000621507.1:c.400C>A	ENSP00000481523.1:p.Leu134Ile
NM_024960.4:c.400C>A	NP_079236.3:p.Leu134Ile
NM_153638.2:c.1273C>A	NP_705902.2:p.Leu425Ile
NM_153640.2:c.400C>A	NP_705904.1:p.Leu134Ile
XM_005260835.2:c.658C>A	XP_005260892.1:p.Leu220Ile
XM_005260836.3:c.400C>A	XP_005260893.3:p.Leu134Ile
XM_006723631.1:c.400C>A	XP_006723694.1:p.Leu134Ile
XM_011529364.1:c.1235+1665C>A	XP_011527666.1:n.1235+1665C>A
NM_001324191.1:c.400C>A	NP_001311120.1:p.Leu134Ile
NM_001324193.1:c.-36C>A	NP_001311122.1:n.-36C>A
NM_024960.5:c.400C>A	NP_079236.3:p.Leu134Ile
NM_153638.3:c.1273C>A	NP_705902.2:p.Leu425Ile
NM_153640.3:c.400C>A	NP_705904.1:p.Leu134Ile
NR_136715.1:n.1297C>A
XM_005260835.3:c.658C>A	XP_005260892.1:p.Leu220Ile
XM_005260836.4:c.400C>A	XP_005260893.3:p.Leu134Ile
XM_011529364.3:c.1235+1665C>A	XP_011527666.1:n.1235+1665C>A
XM_017028077.2:c.-36C>A	XP_016883566.1:n.-36C>A
XM_017028078.2:c.-36C>A	XP_016883567.1:n.-36C>A
XM_017028079.2:c.-36C>A	XP_016883568.1:n.-36C>A
XM_024452002.1:c.-36C>A	XP_024307770.1:n.-36C>A
XR_002958533.1:n.2061C>A
NM_001324191.2:c.400C>A	NP_001311120.1:p.Leu134Ile
NM_001324193.2:c.-36C>A	NP_001311122.1:n.-36C>A
NM_024960.6:c.400C>A	NP_079236.3:p.Leu134Ile
NR_136715.2:n.844C>A
NM_001386393.1:c.943C>A MANE Select	NP_001373322.1:p.Leu315Ile
NM_153638.4:c.1273C>A	NP_705902.2:p.Leu425Ile
NM_153640.4:c.400C>A	NP_705904.1:p.Leu134Ile