Canonical Allele Identifier: CA408112574

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888774G>A (hg19) ; chr20:g.3908127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908127G>A , CM000682.2:g.3908127G>A	GRCh38
NC_000020.10:g.3888774G>A , CM000682.1:g.3888774G>A	GRCh37
NC_000020.9:g.3836774G>A	NCBI36
NG_008131.3:g.24289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.500G>A MANE Select	ENSP00000477429.2:p.Gly167Glu
ENST00000316562.9:c.830G>A	ENSP00000313377.4:p.Gly277Glu
ENST00000336066.8:c.500G>A	ENSP00000477229.2:p.Gly167Glu
ENST00000610179.6:c.500G>A	ENSP00000477429.2:p.Gly167Glu
ENST00000643504.2:c.*273G>A	ENSP00000495157.2:n.*273G>A
ENST00000646394.1:c.327G>A
ENST00000316562.8:c.830G>A	ENSP00000313377.4:p.Gly277Glu
ENST00000336066.7:c.461G>A	ENSP00000477229.1:p.Gly154Glu
ENST00000471830.1:n.374G>A
ENST00000495692.5:c.-336G>A	ENSP00000476745.1:n.-336G>A
ENST00000497424.5:c.-44G>A	ENSP00000417609.1:n.-44G>A
ENST00000610179.5:c.461G>A	ENSP00000477429.1:p.Gly154Glu
ENST00000621507.1:c.-44G>A	ENSP00000481523.1:n.-44G>A
NM_024960.4:c.-44G>A	NP_079236.3:n.-44G>A
NM_153638.2:c.830G>A	NP_705902.2:p.Gly277Glu
NM_153640.2:c.-44G>A	NP_705904.1:n.-44G>A
XM_005260835.2:c.215G>A	XP_005260892.1:p.Gly72Glu
XM_005260836.3:c.-44G>A	XP_005260893.3:n.-44G>A
XM_006723631.1:c.-44G>A	XP_006723694.1:n.-44G>A
XM_011529364.1:c.830G>A	XP_011527666.1:p.Gly277Glu
XM_011529365.1:c.830G>A	XP_011527667.1:p.Gly277Glu
NM_001324191.1:c.-44G>A	NP_001311120.1:n.-44G>A
NM_001324192.1:c.830G>A	NP_001311121.1:p.Gly277Glu
NM_001324193.1:c.-336G>A	NP_001311122.1:n.-336G>A
NM_024960.5:c.-44G>A	NP_079236.3:n.-44G>A
NM_153638.3:c.830G>A	NP_705902.2:p.Gly277Glu
NM_153640.3:c.-44G>A	NP_705904.1:n.-44G>A
NR_136715.1:n.997G>A
XM_005260835.3:c.215G>A	XP_005260892.1:p.Gly72Glu
XM_005260836.4:c.-44G>A	XP_005260893.3:n.-44G>A
XM_011529364.3:c.830G>A	XP_011527666.1:p.Gly277Glu
XM_011529365.2:c.830G>A	XP_011527667.1:p.Gly277Glu
XM_017028077.2:c.-336G>A	XP_016883566.1:n.-336G>A
XM_017028078.2:c.-336G>A	XP_016883567.1:n.-336G>A
XM_017028079.2:c.-336G>A	XP_016883568.1:n.-336G>A
XM_024452002.1:c.-336G>A	XP_024307770.1:n.-336G>A
XR_002958533.1:n.991G>A
NM_001324191.2:c.-44G>A	NP_001311120.1:n.-44G>A
NM_001324193.2:c.-336G>A	NP_001311122.1:n.-336G>A
NM_024960.6:c.-44G>A	NP_079236.3:n.-44G>A
NR_136715.2:n.544G>A
NM_001386393.1:c.500G>A MANE Select	NP_001373322.1:p.Gly167Glu
NM_153638.4:c.830G>A	NP_705902.2:p.Gly277Glu
NM_153640.4:c.-44G>A	NP_705904.1:n.-44G>A