Canonical Allele Identifier: CA9750708

Gene: PANK2

Linked Data

• dbSNP Id: rs769352301
• ExAC: 20:3888792 A / T
• gnomAD v2: 20-3888792-A-T
• gnomAD v4: 20-3908145-A-T
• MyVariant Identifiers: chr20:g.3888792A>T (hg19) ; chr20:g.3908145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908145A>T , CM000682.2:g.3908145A>T	GRCh38
NC_000020.10:g.3888792A>T , CM000682.1:g.3888792A>T	GRCh37
NC_000020.9:g.3836792A>T	NCBI36
NG_008131.3:g.24307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.518A>T MANE Select	ENSP00000477429.2:p.His173Leu
ENST00000316562.9:c.848A>T	ENSP00000313377.4:p.His283Leu
ENST00000336066.8:c.508+10A>T	ENSP00000477229.2:n.508+10A>T
ENST00000610179.6:c.518A>T	ENSP00000477429.2:p.His173Leu
ENST00000643504.2:c.*281+10A>T	ENSP00000495157.2:n.*281+10A>T
ENST00000646394.1:c.345A>T
ENST00000316562.8:c.848A>T	ENSP00000313377.4:p.His283Leu
ENST00000336066.7:c.469+10A>T	ENSP00000477229.1:n.469+10A>T
ENST00000471830.1:n.382+10A>T
ENST00000495692.5:c.-328+10A>T	ENSP00000476745.1:n.-328+10A>T
ENST00000497424.5:c.-26A>T	ENSP00000417609.1:n.-26A>T
ENST00000610179.5:c.479A>T	ENSP00000477429.1:p.His160Leu
ENST00000621507.1:c.-26A>T	ENSP00000481523.1:n.-26A>T
NM_024960.4:c.-26A>T	NP_079236.3:n.-26A>T
NM_153638.2:c.848A>T	NP_705902.2:p.His283Leu
NM_153640.2:c.-26A>T	NP_705904.1:n.-26A>T
XM_005260835.2:c.233A>T	XP_005260892.1:p.His78Leu
XM_005260836.3:c.-26A>T	XP_005260893.3:n.-26A>T
XM_006723631.1:c.-26A>T	XP_006723694.1:n.-26A>T
XM_011529364.1:c.848A>T	XP_011527666.1:p.His283Leu
XM_011529365.1:c.838+10A>T	XP_011527667.1:n.838+10A>T
NM_001324191.1:c.-26A>T	NP_001311120.1:n.-26A>T
NM_001324192.1:c.848A>T	NP_001311121.1:p.His283Leu
NM_001324193.1:c.-328+10A>T	NP_001311122.1:n.-328+10A>T
NM_024960.5:c.-26A>T	NP_079236.3:n.-26A>T
NM_153638.3:c.848A>T	NP_705902.2:p.His283Leu
NM_153640.3:c.-26A>T	NP_705904.1:n.-26A>T
NR_136715.1:n.1005+10A>T
XM_005260835.3:c.233A>T	XP_005260892.1:p.His78Leu
XM_005260836.4:c.-26A>T	XP_005260893.3:n.-26A>T
XM_011529364.3:c.848A>T	XP_011527666.1:p.His283Leu
XM_011529365.2:c.838+10A>T	XP_011527667.1:n.838+10A>T
XM_017028077.2:c.-328+10A>T	XP_016883566.1:n.-328+10A>T
XM_017028078.2:c.-328+10A>T	XP_016883567.1:n.-328+10A>T
XM_017028079.2:c.-328+10A>T	XP_016883568.1:n.-328+10A>T
XM_024452002.1:c.-328+10A>T	XP_024307770.1:n.-328+10A>T
XR_002958533.1:n.1009A>T
NM_001324191.2:c.-26A>T	NP_001311120.1:n.-26A>T
NM_001324193.2:c.-328+10A>T	NP_001311122.1:n.-328+10A>T
NM_024960.6:c.-26A>T	NP_079236.3:n.-26A>T
NR_136715.2:n.552+10A>T
NM_001386393.1:c.518A>T MANE Select	NP_001373322.1:p.His173Leu
NM_153638.4:c.848A>T	NP_705902.2:p.His283Leu
NM_153640.4:c.-26A>T	NP_705904.1:n.-26A>T