Canonical Allele Identifier: CA408112611

Gene: PANK2

Linked Data

• dbSNP Id: rs2090416889
• gnomAD v4: 20-3908146-C-G
• MyVariant Identifiers: chr20:g.3888793C>G (hg19) ; chr20:g.3908146C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908146C>G , CM000682.2:g.3908146C>G	GRCh38
NC_000020.10:g.3888793C>G , CM000682.1:g.3888793C>G	GRCh37
NC_000020.9:g.3836793C>G	NCBI36
NG_008131.3:g.24308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.519C>G MANE Select	ENSP00000477429.2:p.His173Gln
ENST00000316562.9:c.849C>G	ENSP00000313377.4:p.His283Gln
ENST00000336066.8:c.508+11C>G	ENSP00000477229.2:n.508+11C>G
ENST00000610179.6:c.519C>G	ENSP00000477429.2:p.His173Gln
ENST00000643504.2:c.*281+11C>G	ENSP00000495157.2:n.*281+11C>G
ENST00000646394.1:c.346C>G
ENST00000316562.8:c.849C>G	ENSP00000313377.4:p.His283Gln
ENST00000336066.7:c.469+11C>G	ENSP00000477229.1:n.469+11C>G
ENST00000471830.1:n.382+11C>G
ENST00000495692.5:c.-328+11C>G	ENSP00000476745.1:n.-328+11C>G
ENST00000497424.5:c.-25C>G	ENSP00000417609.1:n.-25C>G
ENST00000610179.5:c.480C>G	ENSP00000477429.1:p.His160Gln
ENST00000621507.1:c.-25C>G	ENSP00000481523.1:n.-25C>G
NM_024960.4:c.-25C>G	NP_079236.3:n.-25C>G
NM_153638.2:c.849C>G	NP_705902.2:p.His283Gln
NM_153640.2:c.-25C>G	NP_705904.1:n.-25C>G
XM_005260835.2:c.234C>G	XP_005260892.1:p.His78Gln
XM_005260836.3:c.-25C>G	XP_005260893.3:n.-25C>G
XM_006723631.1:c.-25C>G	XP_006723694.1:n.-25C>G
XM_011529364.1:c.849C>G	XP_011527666.1:p.His283Gln
XM_011529365.1:c.838+11C>G	XP_011527667.1:n.838+11C>G
NM_001324191.1:c.-25C>G	NP_001311120.1:n.-25C>G
NM_001324192.1:c.849C>G	NP_001311121.1:p.His283Gln
NM_001324193.1:c.-328+11C>G	NP_001311122.1:n.-328+11C>G
NM_024960.5:c.-25C>G	NP_079236.3:n.-25C>G
NM_153638.3:c.849C>G	NP_705902.2:p.His283Gln
NM_153640.3:c.-25C>G	NP_705904.1:n.-25C>G
NR_136715.1:n.1005+11C>G
XM_005260835.3:c.234C>G	XP_005260892.1:p.His78Gln
XM_005260836.4:c.-25C>G	XP_005260893.3:n.-25C>G
XM_011529364.3:c.849C>G	XP_011527666.1:p.His283Gln
XM_011529365.2:c.838+11C>G	XP_011527667.1:n.838+11C>G
XM_017028077.2:c.-328+11C>G	XP_016883566.1:n.-328+11C>G
XM_017028078.2:c.-328+11C>G	XP_016883567.1:n.-328+11C>G
XM_017028079.2:c.-328+11C>G	XP_016883568.1:n.-328+11C>G
XM_024452002.1:c.-328+11C>G	XP_024307770.1:n.-328+11C>G
XR_002958533.1:n.1010C>G
NM_001324191.2:c.-25C>G	NP_001311120.1:n.-25C>G
NM_001324193.2:c.-328+11C>G	NP_001311122.1:n.-328+11C>G
NM_024960.6:c.-25C>G	NP_079236.3:n.-25C>G
NR_136715.2:n.552+11C>G
NM_001386393.1:c.519C>G MANE Select	NP_001373322.1:p.His173Gln
NM_153638.4:c.849C>G	NP_705902.2:p.His283Gln
NM_153640.4:c.-25C>G	NP_705904.1:n.-25C>G