Canonical Allele Identifier: CA408117485

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893173T>C (hg19) ; chr20:g.3912526T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912526T>C , CM000682.2:g.3912526T>C	GRCh38
NC_000020.10:g.3893173T>C , CM000682.1:g.3893173T>C	GRCh37
NC_000020.9:g.3841173T>C	NCBI36
NG_008131.3:g.28688T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.974T>C MANE Select	ENSP00000477429.2:p.Leu325Pro
ENST00000316562.9:c.1304T>C	ENSP00000313377.4:p.Leu435Pro
ENST00000336066.8:c.*315T>C	ENSP00000477229.2:n.*315T>C
ENST00000610179.6:c.974T>C	ENSP00000477429.2:p.Leu325Pro
ENST00000643504.2:c.*604T>C	ENSP00000495157.2:n.*604T>C
ENST00000646394.1:c.801T>C
ENST00000316562.8:c.1304T>C	ENSP00000313377.4:p.Leu435Pro
ENST00000336066.7:c.*315T>C	ENSP00000477229.1:n.*315T>C
ENST00000464452.1:n.539T>C
ENST00000495692.5:c.-5T>C	ENSP00000476745.1:n.-5T>C
ENST00000497424.5:c.431T>C	ENSP00000417609.1:p.Leu144Pro
ENST00000610179.5:c.935T>C	ENSP00000477429.1:p.Leu312Pro
ENST00000621507.1:c.431T>C	ENSP00000481523.1:p.Leu144Pro
NM_024960.4:c.431T>C	NP_079236.3:p.Leu144Pro
NM_153638.2:c.1304T>C	NP_705902.2:p.Leu435Pro
NM_153640.2:c.431T>C	NP_705904.1:p.Leu144Pro
XM_005260835.2:c.689T>C	XP_005260892.1:p.Leu230Pro
XM_005260836.3:c.431T>C	XP_005260893.3:p.Leu144Pro
XM_006723631.1:c.431T>C	XP_006723694.1:p.Leu144Pro
XM_011529364.1:c.1235+1696T>C	XP_011527666.1:n.1235+1696T>C
NM_001324191.1:c.431T>C	NP_001311120.1:p.Leu144Pro
NM_001324193.1:c.-5T>C	NP_001311122.1:n.-5T>C
NM_024960.5:c.431T>C	NP_079236.3:p.Leu144Pro
NM_153638.3:c.1304T>C	NP_705902.2:p.Leu435Pro
NM_153640.3:c.431T>C	NP_705904.1:p.Leu144Pro
NR_136715.1:n.1328T>C
XM_005260835.3:c.689T>C	XP_005260892.1:p.Leu230Pro
XM_005260836.4:c.431T>C	XP_005260893.3:p.Leu144Pro
XM_011529364.3:c.1235+1696T>C	XP_011527666.1:n.1235+1696T>C
XM_017028077.2:c.-5T>C	XP_016883566.1:n.-5T>C
XM_017028078.2:c.-5T>C	XP_016883567.1:n.-5T>C
XM_017028079.2:c.-5T>C	XP_016883568.1:n.-5T>C
XM_024452002.1:c.-5T>C	XP_024307770.1:n.-5T>C
XR_002958533.1:n.2092T>C
NM_001324191.2:c.431T>C	NP_001311120.1:p.Leu144Pro
NM_001324193.2:c.-5T>C	NP_001311122.1:n.-5T>C
NM_024960.6:c.431T>C	NP_079236.3:p.Leu144Pro
NR_136715.2:n.875T>C
NM_001386393.1:c.974T>C MANE Select	NP_001373322.1:p.Leu325Pro
NM_153638.4:c.1304T>C	NP_705902.2:p.Leu435Pro
NM_153640.4:c.431T>C	NP_705904.1:p.Leu144Pro