Canonical Allele Identifier: CA408112871

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888870C>A (hg19) ; chr20:g.3908223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908223C>A , CM000682.2:g.3908223C>A	GRCh38
NC_000020.10:g.3888870C>A , CM000682.1:g.3888870C>A	GRCh37
NC_000020.9:g.3836870C>A	NCBI36
NG_008131.3:g.24385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.596C>A MANE Select	ENSP00000477429.2:p.Thr199Asn
ENST00000316562.9:c.926C>A	ENSP00000313377.4:p.Thr309Asn
ENST00000336066.8:c.508+88C>A	ENSP00000477229.2:n.508+88C>A
ENST00000610179.6:c.596C>A	ENSP00000477429.2:p.Thr199Asn
ENST00000643504.2:c.*281+88C>A	ENSP00000495157.2:n.*281+88C>A
ENST00000646394.1:c.423C>A
ENST00000316562.8:c.926C>A	ENSP00000313377.4:p.Thr309Asn
ENST00000336066.7:c.469+88C>A	ENSP00000477229.1:n.469+88C>A
ENST00000471830.1:n.382+88C>A
ENST00000495692.5:c.-328+88C>A	ENSP00000476745.1:n.-328+88C>A
ENST00000497424.5:c.53C>A	ENSP00000417609.1:p.Thr18Asn
ENST00000610179.5:c.557C>A	ENSP00000477429.1:p.Thr186Asn
ENST00000621507.1:c.53C>A	ENSP00000481523.1:p.Thr18Asn
NM_024960.4:c.53C>A	NP_079236.3:p.Thr18Asn
NM_153638.2:c.926C>A	NP_705902.2:p.Thr309Asn
NM_153640.2:c.53C>A	NP_705904.1:p.Thr18Asn
XM_005260835.2:c.311C>A	XP_005260892.1:p.Thr104Asn
XM_005260836.3:c.53C>A	XP_005260893.3:p.Thr18Asn
XM_006723631.1:c.53C>A	XP_006723694.1:p.Thr18Asn
XM_011529364.1:c.926C>A	XP_011527666.1:p.Thr309Asn
XM_011529365.1:c.838+88C>A	XP_011527667.1:n.838+88C>A
NM_001324191.1:c.53C>A	NP_001311120.1:p.Thr18Asn
NM_001324192.1:c.926C>A	NP_001311121.1:p.Thr309Asn
NM_001324193.1:c.-328+88C>A	NP_001311122.1:n.-328+88C>A
NM_024960.5:c.53C>A	NP_079236.3:p.Thr18Asn
NM_153638.3:c.926C>A	NP_705902.2:p.Thr309Asn
NM_153640.3:c.53C>A	NP_705904.1:p.Thr18Asn
NR_136715.1:n.1005+88C>A
XM_005260835.3:c.311C>A	XP_005260892.1:p.Thr104Asn
XM_005260836.4:c.53C>A	XP_005260893.3:p.Thr18Asn
XM_011529364.3:c.926C>A	XP_011527666.1:p.Thr309Asn
XM_011529365.2:c.838+88C>A	XP_011527667.1:n.838+88C>A
XM_017028077.2:c.-328+88C>A	XP_016883566.1:n.-328+88C>A
XM_017028078.2:c.-328+88C>A	XP_016883567.1:n.-328+88C>A
XM_017028079.2:c.-328+88C>A	XP_016883568.1:n.-328+88C>A
XM_024452002.1:c.-328+88C>A	XP_024307770.1:n.-328+88C>A
XR_002958533.1:n.1087C>A
NM_001324191.2:c.53C>A	NP_001311120.1:p.Thr18Asn
NM_001324193.2:c.-328+88C>A	NP_001311122.1:n.-328+88C>A
NM_024960.6:c.53C>A	NP_079236.3:p.Thr18Asn
NR_136715.2:n.552+88C>A
NM_001386393.1:c.596C>A MANE Select	NP_001373322.1:p.Thr199Asn
NM_153638.4:c.926C>A	NP_705902.2:p.Thr309Asn
NM_153640.4:c.53C>A	NP_705904.1:p.Thr18Asn