Canonical Allele Identifier: CA408117355

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893146C>A (hg19) ; chr20:g.3912499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912499C>A , CM000682.2:g.3912499C>A	GRCh38
NC_000020.10:g.3893146C>A , CM000682.1:g.3893146C>A	GRCh37
NC_000020.9:g.3841146C>A	NCBI36
NG_008131.3:g.28661C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.947C>A MANE Select	ENSP00000477429.2:p.Thr316Asn
ENST00000316562.9:c.1277C>A	ENSP00000313377.4:p.Thr426Asn
ENST00000336066.8:c.*288C>A	ENSP00000477229.2:n.*288C>A
ENST00000610179.6:c.947C>A	ENSP00000477429.2:p.Thr316Asn
ENST00000643504.2:c.*577C>A	ENSP00000495157.2:n.*577C>A
ENST00000646394.1:c.774C>A
ENST00000316562.8:c.1277C>A	ENSP00000313377.4:p.Thr426Asn
ENST00000336066.7:c.*288C>A	ENSP00000477229.1:n.*288C>A
ENST00000464452.1:n.512C>A
ENST00000495692.5:c.-32C>A	ENSP00000476745.1:n.-32C>A
ENST00000497424.5:c.404C>A	ENSP00000417609.1:p.Thr135Asn
ENST00000610179.5:c.908C>A	ENSP00000477429.1:p.Thr303Asn
ENST00000621507.1:c.404C>A	ENSP00000481523.1:p.Thr135Asn
NM_024960.4:c.404C>A	NP_079236.3:p.Thr135Asn
NM_153638.2:c.1277C>A	NP_705902.2:p.Thr426Asn
NM_153640.2:c.404C>A	NP_705904.1:p.Thr135Asn
XM_005260835.2:c.662C>A	XP_005260892.1:p.Thr221Asn
XM_005260836.3:c.404C>A	XP_005260893.3:p.Thr135Asn
XM_006723631.1:c.404C>A	XP_006723694.1:p.Thr135Asn
XM_011529364.1:c.1235+1669C>A	XP_011527666.1:n.1235+1669C>A
NM_001324191.1:c.404C>A	NP_001311120.1:p.Thr135Asn
NM_001324193.1:c.-32C>A	NP_001311122.1:n.-32C>A
NM_024960.5:c.404C>A	NP_079236.3:p.Thr135Asn
NM_153638.3:c.1277C>A	NP_705902.2:p.Thr426Asn
NM_153640.3:c.404C>A	NP_705904.1:p.Thr135Asn
NR_136715.1:n.1301C>A
XM_005260835.3:c.662C>A	XP_005260892.1:p.Thr221Asn
XM_005260836.4:c.404C>A	XP_005260893.3:p.Thr135Asn
XM_011529364.3:c.1235+1669C>A	XP_011527666.1:n.1235+1669C>A
XM_017028077.2:c.-32C>A	XP_016883566.1:n.-32C>A
XM_017028078.2:c.-32C>A	XP_016883567.1:n.-32C>A
XM_017028079.2:c.-32C>A	XP_016883568.1:n.-32C>A
XM_024452002.1:c.-32C>A	XP_024307770.1:n.-32C>A
XR_002958533.1:n.2065C>A
NM_001324191.2:c.404C>A	NP_001311120.1:p.Thr135Asn
NM_001324193.2:c.-32C>A	NP_001311122.1:n.-32C>A
NM_024960.6:c.404C>A	NP_079236.3:p.Thr135Asn
NR_136715.2:n.848C>A
NM_001386393.1:c.947C>A MANE Select	NP_001373322.1:p.Thr316Asn
NM_153638.4:c.1277C>A	NP_705902.2:p.Thr426Asn
NM_153640.4:c.404C>A	NP_705904.1:p.Thr135Asn