Canonical Allele Identifier: CA9750523

Gene: PANK2

Linked Data

• ClinVar Variation Id: 289953
• ClinVar RCV Id: RCV000359501 ; RCV001141449 ; RCV003957511
• dbSNP Id: rs199680057
• ExAC: 20:3870027 C / G
• gnomAD v2: 20-3870027-C-G
• gnomAD v3: 20-3889380-C-G
• gnomAD v4: 20-3889380-C-G
• MyVariant Identifiers: chr20:g.3870027C>G (hg19) ; chr20:g.3889380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889380C>G , CM000682.2:g.3889380C>G	GRCh38
NC_000020.10:g.3870027C>G , CM000682.1:g.3870027C>G	GRCh37
NC_000020.9:g.3818027C>G	NCBI36
NG_008131.3:g.5542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316562.9:c.280C>G	ENSP00000313377.4:p.Arg94Gly
ENST00000316562.8:c.280C>G	ENSP00000313377.4:p.Arg94Gly
ENST00000495692.5:c.-538+364C>G	ENSP00000476745.1:n.-538+364C>G
ENST00000497424.5:c.-246+476C>G	ENSP00000417609.1:n.-246+476C>G
NM_024960.4:c.-246+476C>G	NP_079236.3:n.-246+476C>G
NM_153638.2:c.280C>G	NP_705902.2:p.Arg94Gly
XM_005260836.3:c.-246+364C>G	XP_005260893.3:n.-246+364C>G
XM_011529364.1:c.280C>G	XP_011527666.1:p.Arg94Gly
XM_011529365.1:c.280C>G	XP_011527667.1:p.Arg94Gly
NM_001324191.1:c.-762C>G	NP_001311120.1:n.-762C>G
NM_001324192.1:c.280C>G	NP_001311121.1:p.Arg94Gly
NM_024960.5:c.-246+476C>G	NP_079236.3:n.-246+476C>G
NM_153638.3:c.280C>G	NP_705902.2:p.Arg94Gly
NR_136715.1:n.447C>G
XM_005260836.4:c.-246+364C>G	XP_005260893.3:n.-246+364C>G
XM_011529364.3:c.280C>G	XP_011527666.1:p.Arg94Gly
XM_011529365.2:c.280C>G	XP_011527667.1:p.Arg94Gly
XM_017028079.2:c.-538+364C>G	XP_016883568.1:n.-538+364C>G
XM_024452002.1:c.-538+476C>G	XP_024307770.1:n.-538+476C>G
XR_002958533.1:n.441C>G
NM_024960.6:c.-246+476C>G	NP_079236.3:n.-246+476C>G
NM_153638.4:c.280C>G	NP_705902.2:p.Arg94Gly