Canonical Allele Identifier: CA408119230

Gene: PANK2

Linked Data

• COSMIC: COSM478148
• MyVariant Identifiers: chr20:g.3897581A>C (hg19) ; chr20:g.3916934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916934A>C , CM000682.2:g.3916934A>C	GRCh38
NC_000020.10:g.3897581A>C , CM000682.1:g.3897581A>C	GRCh37
NC_000020.9:g.3845581A>C	NCBI36
NG_008131.3:g.33096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1090A>C MANE Select	ENSP00000477429.2:p.Asn364His
ENST00000316562.9:c.1420A>C	ENSP00000313377.4:p.Asn474His
ENST00000336066.8:c.*431A>C	ENSP00000477229.2:n.*431A>C
ENST00000610179.6:c.1090A>C	ENSP00000477429.2:p.Asn364His
ENST00000643504.2:c.*720A>C	ENSP00000495157.2:n.*720A>C
ENST00000646394.1:c.917A>C
ENST00000316562.8:c.1420A>C	ENSP00000313377.4:p.Asn474His
ENST00000336066.7:c.*431A>C	ENSP00000477229.1:n.*431A>C
ENST00000464452.1:n.655A>C
ENST00000495692.5:c.112A>C	ENSP00000476745.1:p.Asn38His
ENST00000497424.5:c.547A>C	ENSP00000417609.1:p.Asn183His
ENST00000610179.5:c.1051A>C	ENSP00000477429.1:p.Asn351His
ENST00000621507.1:c.547A>C	ENSP00000481523.1:p.Asn183His
NM_024960.4:c.547A>C	NP_079236.3:p.Asn183His
NM_153638.2:c.1420A>C	NP_705902.2:p.Asn474His
NM_153640.2:c.547A>C	NP_705904.1:p.Asn183His
XM_005260835.2:c.805A>C	XP_005260892.1:p.Asn269His
XM_005260836.3:c.547A>C	XP_005260893.3:p.Asn183His
XM_006723631.1:c.547A>C	XP_006723694.1:p.Asn183His
XM_011529364.1:c.1243A>C	XP_011527666.1:p.Asn415His
NM_001324191.1:c.547A>C	NP_001311120.1:p.Asn183His
NM_001324193.1:c.112A>C	NP_001311122.1:p.Asn38His
NM_024960.5:c.547A>C	NP_079236.3:p.Asn183His
NM_153638.3:c.1420A>C	NP_705902.2:p.Asn474His
NM_153640.3:c.547A>C	NP_705904.1:p.Asn183His
NR_136715.1:n.1444A>C
XM_005260835.3:c.805A>C	XP_005260892.1:p.Asn269His
XM_005260836.4:c.547A>C	XP_005260893.3:p.Asn183His
XM_011529364.3:c.1243A>C	XP_011527666.1:p.Asn415His
XM_017028077.2:c.112A>C	XP_016883566.1:p.Asn38His
XM_017028078.2:c.112A>C	XP_016883567.1:p.Asn38His
XM_017028079.2:c.112A>C	XP_016883568.1:p.Asn38His
XM_024452002.1:c.112A>C	XP_024307770.1:p.Asn38His
XR_002958533.1:n.2208A>C
NM_001324191.2:c.547A>C	NP_001311120.1:p.Asn183His
NM_001324193.2:c.112A>C	NP_001311122.1:p.Asn38His
NM_024960.6:c.547A>C	NP_079236.3:p.Asn183His
NR_136715.2:n.991A>C
NM_001386393.1:c.1090A>C MANE Select	NP_001373322.1:p.Asn364His
NM_153638.4:c.1420A>C	NP_705902.2:p.Asn474His
NM_153640.4:c.547A>C	NP_705904.1:p.Asn183His