Canonical Allele Identifier: CA408112072

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888573T>A (hg19) ; chr20:g.3907926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3907926T>A , CM000682.2:g.3907926T>A	GRCh38
NC_000020.10:g.3888573T>A , CM000682.1:g.3888573T>A	GRCh37
NC_000020.9:g.3836573T>A	NCBI36
NG_008131.3:g.24088T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.299T>A MANE Select	ENSP00000477429.2:p.Leu100His
ENST00000316562.9:c.629T>A	ENSP00000313377.4:p.Leu210His
ENST00000336066.8:c.299T>A	ENSP00000477229.2:p.Leu100His
ENST00000610179.6:c.299T>A	ENSP00000477429.2:p.Leu100His
ENST00000643504.2:c.*72T>A	ENSP00000495157.2:n.*72T>A
ENST00000646394.1:c.126T>A
ENST00000316562.8:c.629T>A	ENSP00000313377.4:p.Leu210His
ENST00000336066.7:c.260T>A	ENSP00000477229.1:p.Leu87His
ENST00000471830.1:n.173T>A
ENST00000495692.5:c.-537T>A	ENSP00000476745.1:n.-537T>A
ENST00000497424.5:c.-245T>A	ENSP00000417609.1:n.-245T>A
ENST00000610179.5:c.260T>A	ENSP00000477429.1:p.Leu87His
ENST00000621507.1:c.-245T>A	ENSP00000481523.1:n.-245T>A
NM_024960.4:c.-245T>A	NP_079236.3:n.-245T>A
NM_153638.2:c.629T>A	NP_705902.2:p.Leu210His
NM_153640.2:c.-245T>A	NP_705904.1:n.-245T>A
XM_005260835.2:c.14T>A	XP_005260892.1:p.Phe5Tyr
XM_005260836.3:c.-245T>A	XP_005260893.3:n.-245T>A
XM_006723631.1:c.-245T>A	XP_006723694.1:n.-245T>A
XM_011529364.1:c.629T>A	XP_011527666.1:p.Leu210His
XM_011529365.1:c.629T>A	XP_011527667.1:p.Leu210His
NM_001324191.1:c.-245T>A	NP_001311120.1:n.-245T>A
NM_001324192.1:c.629T>A	NP_001311121.1:p.Leu210His
NM_001324193.1:c.-537T>A	NP_001311122.1:n.-537T>A
NM_024960.5:c.-245T>A	NP_079236.3:n.-245T>A
NM_153638.3:c.629T>A	NP_705902.2:p.Leu210His
NM_153640.3:c.-245T>A	NP_705904.1:n.-245T>A
NR_136715.1:n.796T>A
XM_005260835.3:c.14T>A	XP_005260892.1:p.Phe5Tyr
XM_005260836.4:c.-245T>A	XP_005260893.3:n.-245T>A
XM_011529364.3:c.629T>A	XP_011527666.1:p.Leu210His
XM_011529365.2:c.629T>A	XP_011527667.1:p.Leu210His
XM_017028077.2:c.-537T>A	XP_016883566.1:n.-537T>A
XM_017028078.2:c.-537T>A	XP_016883567.1:n.-537T>A
XM_017028079.2:c.-537T>A	XP_016883568.1:n.-537T>A
XM_024452002.1:c.-537T>A	XP_024307770.1:n.-537T>A
XR_002958533.1:n.790T>A
NM_001324191.2:c.-245T>A	NP_001311120.1:n.-245T>A
NM_001324193.2:c.-537T>A	NP_001311122.1:n.-537T>A
NM_024960.6:c.-245T>A	NP_079236.3:n.-245T>A
NR_136715.2:n.343T>A
NM_001386393.1:c.299T>A MANE Select	NP_001373322.1:p.Leu100His
NM_153638.4:c.629T>A	NP_705902.2:p.Leu210His
NM_153640.4:c.-245T>A	NP_705904.1:n.-245T>A