Canonical Allele Identifier: CA408117466

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893169G>C (hg19) ; chr20:g.3912522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912522G>C , CM000682.2:g.3912522G>C	GRCh38
NC_000020.10:g.3893169G>C , CM000682.1:g.3893169G>C	GRCh37
NC_000020.9:g.3841169G>C	NCBI36
NG_008131.3:g.28684G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.970G>C MANE Select	ENSP00000477429.2:p.Ala324Pro
ENST00000316562.9:c.1300G>C	ENSP00000313377.4:p.Ala434Pro
ENST00000336066.8:c.*311G>C	ENSP00000477229.2:n.*311G>C
ENST00000610179.6:c.970G>C	ENSP00000477429.2:p.Ala324Pro
ENST00000643504.2:c.*600G>C	ENSP00000495157.2:n.*600G>C
ENST00000646394.1:c.797G>C
ENST00000316562.8:c.1300G>C	ENSP00000313377.4:p.Ala434Pro
ENST00000336066.7:c.*311G>C	ENSP00000477229.1:n.*311G>C
ENST00000464452.1:n.535G>C
ENST00000495692.5:c.-9G>C	ENSP00000476745.1:n.-9G>C
ENST00000497424.5:c.427G>C	ENSP00000417609.1:p.Ala143Pro
ENST00000610179.5:c.931G>C	ENSP00000477429.1:p.Ala311Pro
ENST00000621507.1:c.427G>C	ENSP00000481523.1:p.Ala143Pro
NM_024960.4:c.427G>C	NP_079236.3:p.Ala143Pro
NM_153638.2:c.1300G>C	NP_705902.2:p.Ala434Pro
NM_153640.2:c.427G>C	NP_705904.1:p.Ala143Pro
XM_005260835.2:c.685G>C	XP_005260892.1:p.Ala229Pro
XM_005260836.3:c.427G>C	XP_005260893.3:p.Ala143Pro
XM_006723631.1:c.427G>C	XP_006723694.1:p.Ala143Pro
XM_011529364.1:c.1235+1692G>C	XP_011527666.1:n.1235+1692G>C
NM_001324191.1:c.427G>C	NP_001311120.1:p.Ala143Pro
NM_001324193.1:c.-9G>C	NP_001311122.1:n.-9G>C
NM_024960.5:c.427G>C	NP_079236.3:p.Ala143Pro
NM_153638.3:c.1300G>C	NP_705902.2:p.Ala434Pro
NM_153640.3:c.427G>C	NP_705904.1:p.Ala143Pro
NR_136715.1:n.1324G>C
XM_005260835.3:c.685G>C	XP_005260892.1:p.Ala229Pro
XM_005260836.4:c.427G>C	XP_005260893.3:p.Ala143Pro
XM_011529364.3:c.1235+1692G>C	XP_011527666.1:n.1235+1692G>C
XM_017028077.2:c.-9G>C	XP_016883566.1:n.-9G>C
XM_017028078.2:c.-9G>C	XP_016883567.1:n.-9G>C
XM_017028079.2:c.-9G>C	XP_016883568.1:n.-9G>C
XM_024452002.1:c.-9G>C	XP_024307770.1:n.-9G>C
XR_002958533.1:n.2088G>C
NM_001324191.2:c.427G>C	NP_001311120.1:p.Ala143Pro
NM_001324193.2:c.-9G>C	NP_001311122.1:n.-9G>C
NM_024960.6:c.427G>C	NP_079236.3:p.Ala143Pro
NR_136715.2:n.871G>C
NM_001386393.1:c.970G>C MANE Select	NP_001373322.1:p.Ala324Pro
NM_153638.4:c.1300G>C	NP_705902.2:p.Ala434Pro
NM_153640.4:c.427G>C	NP_705904.1:p.Ala143Pro