Canonical Allele Identifier: CA408139511

Gene: PANK2

Linked Data

• ClinVar Variation Id: 1401101
• ClinVar RCV Id: RCV001911636
• dbSNP Id: rs1452787032
• gnomAD v2: 20-3869934-C-T
• gnomAD v3: 20-3889287-C-T
• gnomAD v4: 20-3889287-C-T
• MyVariant Identifiers: chr20:g.3869934C>T (hg19) ; chr20:g.3889287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889287C>T , CM000682.2:g.3889287C>T	GRCh38
NC_000020.10:g.3869934C>T , CM000682.1:g.3869934C>T	GRCh37
NC_000020.9:g.3817934C>T	NCBI36
NG_008131.3:g.5449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316562.9:c.187C>T	ENSP00000313377.4:p.Pro63Ser
ENST00000316562.8:c.187C>T	ENSP00000313377.4:p.Pro63Ser
ENST00000495692.5:c.-538+271C>T	ENSP00000476745.1:n.-538+271C>T
ENST00000497424.5:c.-246+383C>T	ENSP00000417609.1:n.-246+383C>T
NM_024960.4:c.-246+383C>T	NP_079236.3:n.-246+383C>T
NM_153638.2:c.187C>T	NP_705902.2:p.Pro63Ser
XM_005260836.3:c.-246+271C>T	XP_005260893.3:n.-246+271C>T
XM_011529364.1:c.187C>T	XP_011527666.1:p.Pro63Ser
XM_011529365.1:c.187C>T	XP_011527667.1:p.Pro63Ser
NM_001324191.1:c.-855C>T	NP_001311120.1:n.-855C>T
NM_001324192.1:c.187C>T	NP_001311121.1:p.Pro63Ser
NM_024960.5:c.-246+383C>T	NP_079236.3:n.-246+383C>T
NM_153638.3:c.187C>T	NP_705902.2:p.Pro63Ser
NR_136715.1:n.354C>T
XM_005260836.4:c.-246+271C>T	XP_005260893.3:n.-246+271C>T
XM_011529364.3:c.187C>T	XP_011527666.1:p.Pro63Ser
XM_011529365.2:c.187C>T	XP_011527667.1:p.Pro63Ser
XM_017028079.2:c.-538+271C>T	XP_016883568.1:n.-538+271C>T
XM_024452002.1:c.-538+383C>T	XP_024307770.1:n.-538+383C>T
XR_002958533.1:n.348C>T
NM_024960.6:c.-246+383C>T	NP_079236.3:n.-246+383C>T
NM_153638.4:c.187C>T	NP_705902.2:p.Pro63Ser