Canonical Allele Identifier: CA408117348

Gene: PANK2

Linked Data

• ClinVar Variation Id: 1416528
• ClinVar RCV Id: RCV001935746
• dbSNP Id: rs2146872522
• gnomAD v4: 20-3912496-T-C
• MyVariant Identifiers: chr20:g.3893143T>C (hg19) ; chr20:g.3912496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912496T>C , CM000682.2:g.3912496T>C	GRCh38
NC_000020.10:g.3893143T>C , CM000682.1:g.3893143T>C	GRCh37
NC_000020.9:g.3841143T>C	NCBI36
NG_008131.3:g.28658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.944T>C MANE Select	ENSP00000477429.2:p.Leu315Pro
ENST00000316562.9:c.1274T>C	ENSP00000313377.4:p.Leu425Pro
ENST00000336066.8:c.*285T>C	ENSP00000477229.2:n.*285T>C
ENST00000610179.6:c.944T>C	ENSP00000477429.2:p.Leu315Pro
ENST00000643504.2:c.*574T>C	ENSP00000495157.2:n.*574T>C
ENST00000646394.1:c.771T>C
ENST00000316562.8:c.1274T>C	ENSP00000313377.4:p.Leu425Pro
ENST00000336066.7:c.*285T>C	ENSP00000477229.1:n.*285T>C
ENST00000464452.1:n.509T>C
ENST00000495692.5:c.-35T>C	ENSP00000476745.1:n.-35T>C
ENST00000497424.5:c.401T>C	ENSP00000417609.1:p.Leu134Pro
ENST00000610179.5:c.905T>C	ENSP00000477429.1:p.Leu302Pro
ENST00000621507.1:c.401T>C	ENSP00000481523.1:p.Leu134Pro
NM_024960.4:c.401T>C	NP_079236.3:p.Leu134Pro
NM_153638.2:c.1274T>C	NP_705902.2:p.Leu425Pro
NM_153640.2:c.401T>C	NP_705904.1:p.Leu134Pro
XM_005260835.2:c.659T>C	XP_005260892.1:p.Leu220Pro
XM_005260836.3:c.401T>C	XP_005260893.3:p.Leu134Pro
XM_006723631.1:c.401T>C	XP_006723694.1:p.Leu134Pro
XM_011529364.1:c.1235+1666T>C	XP_011527666.1:n.1235+1666T>C
NM_001324191.1:c.401T>C	NP_001311120.1:p.Leu134Pro
NM_001324193.1:c.-35T>C	NP_001311122.1:n.-35T>C
NM_024960.5:c.401T>C	NP_079236.3:p.Leu134Pro
NM_153638.3:c.1274T>C	NP_705902.2:p.Leu425Pro
NM_153640.3:c.401T>C	NP_705904.1:p.Leu134Pro
NR_136715.1:n.1298T>C
XM_005260835.3:c.659T>C	XP_005260892.1:p.Leu220Pro
XM_005260836.4:c.401T>C	XP_005260893.3:p.Leu134Pro
XM_011529364.3:c.1235+1666T>C	XP_011527666.1:n.1235+1666T>C
XM_017028077.2:c.-35T>C	XP_016883566.1:n.-35T>C
XM_017028078.2:c.-35T>C	XP_016883567.1:n.-35T>C
XM_017028079.2:c.-35T>C	XP_016883568.1:n.-35T>C
XM_024452002.1:c.-35T>C	XP_024307770.1:n.-35T>C
XR_002958533.1:n.2062T>C
NM_001324191.2:c.401T>C	NP_001311120.1:p.Leu134Pro
NM_001324193.2:c.-35T>C	NP_001311122.1:n.-35T>C
NM_024960.6:c.401T>C	NP_079236.3:p.Leu134Pro
NR_136715.2:n.845T>C
NM_001386393.1:c.944T>C MANE Select	NP_001373322.1:p.Leu315Pro
NM_153638.4:c.1274T>C	NP_705902.2:p.Leu425Pro
NM_153640.4:c.401T>C	NP_705904.1:p.Leu134Pro