Canonical Allele Identifier: CA9750725

Gene: PANK2

Linked Data

• ClinVar Variation Id: 338362
• ClinVar RCV Id: RCV000300446 ; RCV002510879 ; RCV003910314
• dbSNP Id: rs78631398
• ExAC: 20:3888898 G / A
• gnomAD v2: 20-3888898-G-A
• gnomAD v3: 20-3908251-G-A
• gnomAD v4: 20-3908251-G-A
• MyVariant Identifiers: chr20:g.3888898G>A (hg19) ; chr20:g.3908251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908251G>A , CM000682.2:g.3908251G>A	GRCh38
NC_000020.10:g.3888898G>A , CM000682.1:g.3888898G>A	GRCh37
NC_000020.9:g.3836898G>A	NCBI36
NG_008131.3:g.24413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.624G>A MANE Select	ENSP00000477429.2:p.Ala208=
ENST00000316562.9:c.954G>A	ENSP00000313377.4:p.Ala318=
ENST00000336066.8:c.508+116G>A	ENSP00000477229.2:n.508+116G>A
ENST00000610179.6:c.624G>A	ENSP00000477429.2:p.Ala208=
ENST00000643504.2:c.*281+116G>A	ENSP00000495157.2:n.*281+116G>A
ENST00000646394.1:c.451G>A
ENST00000316562.8:c.954G>A	ENSP00000313377.4:p.Ala318=
ENST00000336066.7:c.469+116G>A	ENSP00000477229.1:n.469+116G>A
ENST00000471830.1:n.382+116G>A
ENST00000495692.5:c.-328+116G>A	ENSP00000476745.1:n.-328+116G>A
ENST00000497424.5:c.81G>A	ENSP00000417609.1:p.Ala27=
ENST00000610179.5:c.585G>A	ENSP00000477429.1:p.Ala195=
ENST00000621507.1:c.81G>A	ENSP00000481523.1:p.Ala27=
NM_024960.4:c.81G>A	NP_079236.3:p.Ala27=
NM_153638.2:c.954G>A	NP_705902.2:p.Ala318=
NM_153640.2:c.81G>A	NP_705904.1:p.Ala27=
XM_005260835.2:c.339G>A	XP_005260892.1:p.Ala113=
XM_005260836.3:c.81G>A	XP_005260893.3:p.Ala27=
XM_006723631.1:c.81G>A	XP_006723694.1:p.Ala27=
XM_011529364.1:c.954G>A	XP_011527666.1:p.Ala318=
XM_011529365.1:c.838+116G>A	XP_011527667.1:n.838+116G>A
NM_001324191.1:c.81G>A	NP_001311120.1:p.Ala27=
NM_001324192.1:c.954G>A	NP_001311121.1:p.Ala318=
NM_001324193.1:c.-328+116G>A	NP_001311122.1:n.-328+116G>A
NM_024960.5:c.81G>A	NP_079236.3:p.Ala27=
NM_153638.3:c.954G>A	NP_705902.2:p.Ala318=
NM_153640.3:c.81G>A	NP_705904.1:p.Ala27=
NR_136715.1:n.1005+116G>A
XM_005260835.3:c.339G>A	XP_005260892.1:p.Ala113=
XM_005260836.4:c.81G>A	XP_005260893.3:p.Ala27=
XM_011529364.3:c.954G>A	XP_011527666.1:p.Ala318=
XM_011529365.2:c.838+116G>A	XP_011527667.1:n.838+116G>A
XM_017028077.2:c.-328+116G>A	XP_016883566.1:n.-328+116G>A
XM_017028078.2:c.-328+116G>A	XP_016883567.1:n.-328+116G>A
XM_017028079.2:c.-328+116G>A	XP_016883568.1:n.-328+116G>A
XM_024452002.1:c.-328+116G>A	XP_024307770.1:n.-328+116G>A
XR_002958533.1:n.1115G>A
NM_001324191.2:c.81G>A	NP_001311120.1:p.Ala27=
NM_001324193.2:c.-328+116G>A	NP_001311122.1:n.-328+116G>A
NM_024960.6:c.81G>A	NP_079236.3:p.Ala27=
NR_136715.2:n.552+116G>A
NM_001386393.1:c.624G>A MANE Select	NP_001373322.1:p.Ala208=
NM_153638.4:c.954G>A	NP_705902.2:p.Ala318=
NM_153640.4:c.81G>A	NP_705904.1:p.Ala27=