Canonical Allele Identifier: CA509423082

Gene: PANK2

Linked Data

• ClinVar Variation Id: 3015132
• ClinVar RCV Id: RCV003870739
• dbSNP Id: rs1235683219
• gnomAD v2: 20-3893150-C-G
• gnomAD v4: 20-3912503-C-G
• MyVariant Identifiers: chr20:g.3893150C>G (hg19) ; chr20:g.3912503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912503C>G , CM000682.2:g.3912503C>G	GRCh38
NC_000020.10:g.3893150C>G , CM000682.1:g.3893150C>G	GRCh37
NC_000020.9:g.3841150C>G	NCBI36
NG_008131.3:g.28665C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.951C>G MANE Select	ENSP00000477429.2:p.Gly317=
ENST00000316562.9:c.1281C>G	ENSP00000313377.4:p.Gly427=
ENST00000336066.8:c.*292C>G	ENSP00000477229.2:n.*292C>G
ENST00000610179.6:c.951C>G	ENSP00000477429.2:p.Gly317=
ENST00000643504.2:c.*581C>G	ENSP00000495157.2:n.*581C>G
ENST00000646394.1:c.778C>G
ENST00000316562.8:c.1281C>G	ENSP00000313377.4:p.Gly427=
ENST00000336066.7:c.*292C>G	ENSP00000477229.1:n.*292C>G
ENST00000464452.1:n.516C>G
ENST00000495692.5:c.-28C>G	ENSP00000476745.1:n.-28C>G
ENST00000497424.5:c.408C>G	ENSP00000417609.1:p.Gly136=
ENST00000610179.5:c.912C>G	ENSP00000477429.1:p.Gly304=
ENST00000621507.1:c.408C>G	ENSP00000481523.1:p.Gly136=
NM_024960.4:c.408C>G	NP_079236.3:p.Gly136=
NM_153638.2:c.1281C>G	NP_705902.2:p.Gly427=
NM_153640.2:c.408C>G	NP_705904.1:p.Gly136=
XM_005260835.2:c.666C>G	XP_005260892.1:p.Gly222=
XM_005260836.3:c.408C>G	XP_005260893.3:p.Gly136=
XM_006723631.1:c.408C>G	XP_006723694.1:p.Gly136=
XM_011529364.1:c.1235+1673C>G	XP_011527666.1:n.1235+1673C>G
NM_001324191.1:c.408C>G	NP_001311120.1:p.Gly136=
NM_001324193.1:c.-28C>G	NP_001311122.1:n.-28C>G
NM_024960.5:c.408C>G	NP_079236.3:p.Gly136=
NM_153638.3:c.1281C>G	NP_705902.2:p.Gly427=
NM_153640.3:c.408C>G	NP_705904.1:p.Gly136=
NR_136715.1:n.1305C>G
XM_005260835.3:c.666C>G	XP_005260892.1:p.Gly222=
XM_005260836.4:c.408C>G	XP_005260893.3:p.Gly136=
XM_011529364.3:c.1235+1673C>G	XP_011527666.1:n.1235+1673C>G
XM_017028077.2:c.-28C>G	XP_016883566.1:n.-28C>G
XM_017028078.2:c.-28C>G	XP_016883567.1:n.-28C>G
XM_017028079.2:c.-28C>G	XP_016883568.1:n.-28C>G
XM_024452002.1:c.-28C>G	XP_024307770.1:n.-28C>G
XR_002958533.1:n.2069C>G
NM_001324191.2:c.408C>G	NP_001311120.1:p.Gly136=
NM_001324193.2:c.-28C>G	NP_001311122.1:n.-28C>G
NM_024960.6:c.408C>G	NP_079236.3:p.Gly136=
NR_136715.2:n.852C>G
NM_001386393.1:c.951C>G MANE Select	NP_001373322.1:p.Gly317=
NM_153638.4:c.1281C>G	NP_705902.2:p.Gly427=
NM_153640.4:c.408C>G	NP_705904.1:p.Gly136=