Canonical Allele Identifier: CA408112742

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888843G>T (hg19) ; chr20:g.3908196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908196G>T , CM000682.2:g.3908196G>T	GRCh38
NC_000020.10:g.3888843G>T , CM000682.1:g.3888843G>T	GRCh37
NC_000020.9:g.3836843G>T	NCBI36
NG_008131.3:g.24358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.569G>T MANE Select	ENSP00000477429.2:p.Arg190Ile
ENST00000316562.9:c.899G>T	ENSP00000313377.4:p.Arg300Ile
ENST00000336066.8:c.508+61G>T	ENSP00000477229.2:n.508+61G>T
ENST00000610179.6:c.569G>T	ENSP00000477429.2:p.Arg190Ile
ENST00000643504.2:c.*281+61G>T	ENSP00000495157.2:n.*281+61G>T
ENST00000646394.1:c.396G>T
ENST00000316562.8:c.899G>T	ENSP00000313377.4:p.Arg300Ile
ENST00000336066.7:c.469+61G>T	ENSP00000477229.1:n.469+61G>T
ENST00000471830.1:n.382+61G>T
ENST00000495692.5:c.-328+61G>T	ENSP00000476745.1:n.-328+61G>T
ENST00000497424.5:c.26G>T	ENSP00000417609.1:p.Arg9Ile
ENST00000610179.5:c.530G>T	ENSP00000477429.1:p.Arg177Ile
ENST00000621507.1:c.26G>T	ENSP00000481523.1:p.Arg9Ile
NM_024960.4:c.26G>T	NP_079236.3:p.Arg9Ile
NM_153638.2:c.899G>T	NP_705902.2:p.Arg300Ile
NM_153640.2:c.26G>T	NP_705904.1:p.Arg9Ile
XM_005260835.2:c.284G>T	XP_005260892.1:p.Arg95Ile
XM_005260836.3:c.26G>T	XP_005260893.3:p.Arg9Ile
XM_006723631.1:c.26G>T	XP_006723694.1:p.Arg9Ile
XM_011529364.1:c.899G>T	XP_011527666.1:p.Arg300Ile
XM_011529365.1:c.838+61G>T	XP_011527667.1:n.838+61G>T
NM_001324191.1:c.26G>T	NP_001311120.1:p.Arg9Ile
NM_001324192.1:c.899G>T	NP_001311121.1:p.Arg300Ile
NM_001324193.1:c.-328+61G>T	NP_001311122.1:n.-328+61G>T
NM_024960.5:c.26G>T	NP_079236.3:p.Arg9Ile
NM_153638.3:c.899G>T	NP_705902.2:p.Arg300Ile
NM_153640.3:c.26G>T	NP_705904.1:p.Arg9Ile
NR_136715.1:n.1005+61G>T
XM_005260835.3:c.284G>T	XP_005260892.1:p.Arg95Ile
XM_005260836.4:c.26G>T	XP_005260893.3:p.Arg9Ile
XM_011529364.3:c.899G>T	XP_011527666.1:p.Arg300Ile
XM_011529365.2:c.838+61G>T	XP_011527667.1:n.838+61G>T
XM_017028077.2:c.-328+61G>T	XP_016883566.1:n.-328+61G>T
XM_017028078.2:c.-328+61G>T	XP_016883567.1:n.-328+61G>T
XM_017028079.2:c.-328+61G>T	XP_016883568.1:n.-328+61G>T
XM_024452002.1:c.-328+61G>T	XP_024307770.1:n.-328+61G>T
XR_002958533.1:n.1060G>T
NM_001324191.2:c.26G>T	NP_001311120.1:p.Arg9Ile
NM_001324193.2:c.-328+61G>T	NP_001311122.1:n.-328+61G>T
NM_024960.6:c.26G>T	NP_079236.3:p.Arg9Ile
NR_136715.2:n.552+61G>T
NM_001386393.1:c.569G>T MANE Select	NP_001373322.1:p.Arg190Ile
NM_153638.4:c.899G>T	NP_705902.2:p.Arg300Ile
NM_153640.4:c.26G>T	NP_705904.1:p.Arg9Ile