Canonical Allele Identifier: CA408112703

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888834A>T (hg19) ; chr20:g.3908187A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908187A>T , CM000682.2:g.3908187A>T	GRCh38
NC_000020.10:g.3888834A>T , CM000682.1:g.3888834A>T	GRCh37
NC_000020.9:g.3836834A>T	NCBI36
NG_008131.3:g.24349A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.560A>T MANE Select	ENSP00000477429.2:p.Gln187Leu
ENST00000316562.9:c.890A>T	ENSP00000313377.4:p.Gln297Leu
ENST00000336066.8:c.508+52A>T	ENSP00000477229.2:n.508+52A>T
ENST00000610179.6:c.560A>T	ENSP00000477429.2:p.Gln187Leu
ENST00000643504.2:c.*281+52A>T	ENSP00000495157.2:n.*281+52A>T
ENST00000646394.1:c.387A>T
ENST00000316562.8:c.890A>T	ENSP00000313377.4:p.Gln297Leu
ENST00000336066.7:c.469+52A>T	ENSP00000477229.1:n.469+52A>T
ENST00000471830.1:n.382+52A>T
ENST00000495692.5:c.-328+52A>T	ENSP00000476745.1:n.-328+52A>T
ENST00000497424.5:c.17A>T	ENSP00000417609.1:p.Gln6Leu
ENST00000610179.5:c.521A>T	ENSP00000477429.1:p.Gln174Leu
ENST00000621507.1:c.17A>T	ENSP00000481523.1:p.Gln6Leu
NM_024960.4:c.17A>T	NP_079236.3:p.Gln6Leu
NM_153638.2:c.890A>T	NP_705902.2:p.Gln297Leu
NM_153640.2:c.17A>T	NP_705904.1:p.Gln6Leu
XM_005260835.2:c.275A>T	XP_005260892.1:p.Gln92Leu
XM_005260836.3:c.17A>T	XP_005260893.3:p.Gln6Leu
XM_006723631.1:c.17A>T	XP_006723694.1:p.Gln6Leu
XM_011529364.1:c.890A>T	XP_011527666.1:p.Gln297Leu
XM_011529365.1:c.838+52A>T	XP_011527667.1:n.838+52A>T
NM_001324191.1:c.17A>T	NP_001311120.1:p.Gln6Leu
NM_001324192.1:c.890A>T	NP_001311121.1:p.Gln297Leu
NM_001324193.1:c.-328+52A>T	NP_001311122.1:n.-328+52A>T
NM_024960.5:c.17A>T	NP_079236.3:p.Gln6Leu
NM_153638.3:c.890A>T	NP_705902.2:p.Gln297Leu
NM_153640.3:c.17A>T	NP_705904.1:p.Gln6Leu
NR_136715.1:n.1005+52A>T
XM_005260835.3:c.275A>T	XP_005260892.1:p.Gln92Leu
XM_005260836.4:c.17A>T	XP_005260893.3:p.Gln6Leu
XM_011529364.3:c.890A>T	XP_011527666.1:p.Gln297Leu
XM_011529365.2:c.838+52A>T	XP_011527667.1:n.838+52A>T
XM_017028077.2:c.-328+52A>T	XP_016883566.1:n.-328+52A>T
XM_017028078.2:c.-328+52A>T	XP_016883567.1:n.-328+52A>T
XM_017028079.2:c.-328+52A>T	XP_016883568.1:n.-328+52A>T
XM_024452002.1:c.-328+52A>T	XP_024307770.1:n.-328+52A>T
XR_002958533.1:n.1051A>T
NM_001324191.2:c.17A>T	NP_001311120.1:p.Gln6Leu
NM_001324193.2:c.-328+52A>T	NP_001311122.1:n.-328+52A>T
NM_024960.6:c.17A>T	NP_079236.3:p.Gln6Leu
NR_136715.2:n.552+52A>T
NM_001386393.1:c.560A>T MANE Select	NP_001373322.1:p.Gln187Leu
NM_153638.4:c.890A>T	NP_705902.2:p.Gln297Leu
NM_153640.4:c.17A>T	NP_705904.1:p.Gln6Leu