Canonical Allele Identifier: CA408112838

Gene: PANK2

Linked Data

• gnomAD v4: 20-3908216-C-G
• MyVariant Identifiers: chr20:g.3888863C>G (hg19) ; chr20:g.3908216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908216C>G , CM000682.2:g.3908216C>G	GRCh38
NC_000020.10:g.3888863C>G , CM000682.1:g.3888863C>G	GRCh37
NC_000020.9:g.3836863C>G	NCBI36
NG_008131.3:g.24378C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.589C>G MANE Select	ENSP00000477429.2:p.Leu197Val
ENST00000316562.9:c.919C>G	ENSP00000313377.4:p.Leu307Val
ENST00000336066.8:c.508+81C>G	ENSP00000477229.2:n.508+81C>G
ENST00000610179.6:c.589C>G	ENSP00000477429.2:p.Leu197Val
ENST00000643504.2:c.*281+81C>G	ENSP00000495157.2:n.*281+81C>G
ENST00000646394.1:c.416C>G
ENST00000316562.8:c.919C>G	ENSP00000313377.4:p.Leu307Val
ENST00000336066.7:c.469+81C>G	ENSP00000477229.1:n.469+81C>G
ENST00000471830.1:n.382+81C>G
ENST00000495692.5:c.-328+81C>G	ENSP00000476745.1:n.-328+81C>G
ENST00000497424.5:c.46C>G	ENSP00000417609.1:p.Leu16Val
ENST00000610179.5:c.550C>G	ENSP00000477429.1:p.Leu184Val
ENST00000621507.1:c.46C>G	ENSP00000481523.1:p.Leu16Val
NM_024960.4:c.46C>G	NP_079236.3:p.Leu16Val
NM_153638.2:c.919C>G	NP_705902.2:p.Leu307Val
NM_153640.2:c.46C>G	NP_705904.1:p.Leu16Val
XM_005260835.2:c.304C>G	XP_005260892.1:p.Leu102Val
XM_005260836.3:c.46C>G	XP_005260893.3:p.Leu16Val
XM_006723631.1:c.46C>G	XP_006723694.1:p.Leu16Val
XM_011529364.1:c.919C>G	XP_011527666.1:p.Leu307Val
XM_011529365.1:c.838+81C>G	XP_011527667.1:n.838+81C>G
NM_001324191.1:c.46C>G	NP_001311120.1:p.Leu16Val
NM_001324192.1:c.919C>G	NP_001311121.1:p.Leu307Val
NM_001324193.1:c.-328+81C>G	NP_001311122.1:n.-328+81C>G
NM_024960.5:c.46C>G	NP_079236.3:p.Leu16Val
NM_153638.3:c.919C>G	NP_705902.2:p.Leu307Val
NM_153640.3:c.46C>G	NP_705904.1:p.Leu16Val
NR_136715.1:n.1005+81C>G
XM_005260835.3:c.304C>G	XP_005260892.1:p.Leu102Val
XM_005260836.4:c.46C>G	XP_005260893.3:p.Leu16Val
XM_011529364.3:c.919C>G	XP_011527666.1:p.Leu307Val
XM_011529365.2:c.838+81C>G	XP_011527667.1:n.838+81C>G
XM_017028077.2:c.-328+81C>G	XP_016883566.1:n.-328+81C>G
XM_017028078.2:c.-328+81C>G	XP_016883567.1:n.-328+81C>G
XM_017028079.2:c.-328+81C>G	XP_016883568.1:n.-328+81C>G
XM_024452002.1:c.-328+81C>G	XP_024307770.1:n.-328+81C>G
XR_002958533.1:n.1080C>G
NM_001324191.2:c.46C>G	NP_001311120.1:p.Leu16Val
NM_001324193.2:c.-328+81C>G	NP_001311122.1:n.-328+81C>G
NM_024960.6:c.46C>G	NP_079236.3:p.Leu16Val
NR_136715.2:n.552+81C>G
NM_001386393.1:c.589C>G MANE Select	NP_001373322.1:p.Leu197Val
NM_153638.4:c.919C>G	NP_705902.2:p.Leu307Val
NM_153640.4:c.46C>G	NP_705904.1:p.Leu16Val