Canonical Allele Identifier: CA408117947

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893257T>G (hg19) ; chr20:g.3912610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912610T>G , CM000682.2:g.3912610T>G	GRCh38
NC_000020.10:g.3893257T>G , CM000682.1:g.3893257T>G	GRCh37
NC_000020.9:g.3841257T>G	NCBI36
NG_008131.3:g.28772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1058T>G MANE Select	ENSP00000477429.2:p.Leu353Arg
ENST00000316562.9:c.1388T>G	ENSP00000313377.4:p.Leu463Arg
ENST00000336066.8:c.*399T>G	ENSP00000477229.2:n.*399T>G
ENST00000610179.6:c.1058T>G	ENSP00000477429.2:p.Leu353Arg
ENST00000643504.2:c.*688T>G	ENSP00000495157.2:n.*688T>G
ENST00000646394.1:c.885T>G
ENST00000316562.8:c.1388T>G	ENSP00000313377.4:p.Leu463Arg
ENST00000336066.7:c.*399T>G	ENSP00000477229.1:n.*399T>G
ENST00000464452.1:n.623T>G
ENST00000495692.5:c.80T>G	ENSP00000476745.1:p.Leu27Arg
ENST00000497424.5:c.515T>G	ENSP00000417609.1:p.Leu172Arg
ENST00000610179.5:c.1019T>G	ENSP00000477429.1:p.Leu340Arg
ENST00000621507.1:c.515T>G	ENSP00000481523.1:p.Leu172Arg
NM_024960.4:c.515T>G	NP_079236.3:p.Leu172Arg
NM_153638.2:c.1388T>G	NP_705902.2:p.Leu463Arg
NM_153640.2:c.515T>G	NP_705904.1:p.Leu172Arg
XM_005260835.2:c.773T>G	XP_005260892.1:p.Leu258Arg
XM_005260836.3:c.515T>G	XP_005260893.3:p.Leu172Arg
XM_006723631.1:c.515T>G	XP_006723694.1:p.Leu172Arg
XM_011529364.1:c.1235+1780T>G	XP_011527666.1:n.1235+1780T>G
NM_001324191.1:c.515T>G	NP_001311120.1:p.Leu172Arg
NM_001324193.1:c.80T>G	NP_001311122.1:p.Leu27Arg
NM_024960.5:c.515T>G	NP_079236.3:p.Leu172Arg
NM_153638.3:c.1388T>G	NP_705902.2:p.Leu463Arg
NM_153640.3:c.515T>G	NP_705904.1:p.Leu172Arg
NR_136715.1:n.1412T>G
XM_005260835.3:c.773T>G	XP_005260892.1:p.Leu258Arg
XM_005260836.4:c.515T>G	XP_005260893.3:p.Leu172Arg
XM_011529364.3:c.1235+1780T>G	XP_011527666.1:n.1235+1780T>G
XM_017028077.2:c.80T>G	XP_016883566.1:p.Leu27Arg
XM_017028078.2:c.80T>G	XP_016883567.1:p.Leu27Arg
XM_017028079.2:c.80T>G	XP_016883568.1:p.Leu27Arg
XM_024452002.1:c.80T>G	XP_024307770.1:p.Leu27Arg
XR_002958533.1:n.2176T>G
NM_001324191.2:c.515T>G	NP_001311120.1:p.Leu172Arg
NM_001324193.2:c.80T>G	NP_001311122.1:p.Leu27Arg
NM_024960.6:c.515T>G	NP_079236.3:p.Leu172Arg
NR_136715.2:n.959T>G
NM_001386393.1:c.1058T>G MANE Select	NP_001373322.1:p.Leu353Arg
NM_153638.4:c.1388T>G	NP_705902.2:p.Leu463Arg
NM_153640.4:c.515T>G	NP_705904.1:p.Leu172Arg