Canonical Allele Identifier: CA408117945

Gene: PANK2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1058T>C MANE Select	ENSP00000477429.2:p.Leu353Pro
ENST00000316562.9:c.1388T>C	ENSP00000313377.4:p.Leu463Pro
ENST00000336066.8:c.*399T>C	ENSP00000477229.2:n.*399T>C
ENST00000610179.6:c.1058T>C	ENSP00000477429.2:p.Leu353Pro
ENST00000643504.2:c.*688T>C	ENSP00000495157.2:n.*688T>C
ENST00000646394.1:c.885T>C
ENST00000316562.8:c.1388T>C	ENSP00000313377.4:p.Leu463Pro
ENST00000336066.7:c.*399T>C	ENSP00000477229.1:n.*399T>C
ENST00000464452.1:n.623T>C
ENST00000495692.5:c.80T>C	ENSP00000476745.1:p.Leu27Pro
ENST00000497424.5:c.515T>C	ENSP00000417609.1:p.Leu172Pro
ENST00000610179.5:c.1019T>C	ENSP00000477429.1:p.Leu340Pro
ENST00000621507.1:c.515T>C	ENSP00000481523.1:p.Leu172Pro
NM_024960.4:c.515T>C	NP_079236.3:p.Leu172Pro
NM_153638.2:c.1388T>C	NP_705902.2:p.Leu463Pro
NM_153640.2:c.515T>C	NP_705904.1:p.Leu172Pro
XM_005260835.2:c.773T>C	XP_005260892.1:p.Leu258Pro
XM_005260836.3:c.515T>C	XP_005260893.3:p.Leu172Pro
XM_006723631.1:c.515T>C	XP_006723694.1:p.Leu172Pro
XM_011529364.1:c.1235+1780T>C	XP_011527666.1:n.1235+1780T>C
NM_001324191.1:c.515T>C	NP_001311120.1:p.Leu172Pro
NM_001324193.1:c.80T>C	NP_001311122.1:p.Leu27Pro
NM_024960.5:c.515T>C	NP_079236.3:p.Leu172Pro
NM_153638.3:c.1388T>C	NP_705902.2:p.Leu463Pro
NM_153640.3:c.515T>C	NP_705904.1:p.Leu172Pro
NR_136715.1:n.1412T>C
XM_005260835.3:c.773T>C	XP_005260892.1:p.Leu258Pro
XM_005260836.4:c.515T>C	XP_005260893.3:p.Leu172Pro
XM_011529364.3:c.1235+1780T>C	XP_011527666.1:n.1235+1780T>C
XM_017028077.2:c.80T>C	XP_016883566.1:p.Leu27Pro
XM_017028078.2:c.80T>C	XP_016883567.1:p.Leu27Pro
XM_017028079.2:c.80T>C	XP_016883568.1:p.Leu27Pro
XM_024452002.1:c.80T>C	XP_024307770.1:p.Leu27Pro
XR_002958533.1:n.2176T>C
NM_001324191.2:c.515T>C	NP_001311120.1:p.Leu172Pro
NM_001324193.2:c.80T>C	NP_001311122.1:p.Leu27Pro
NM_024960.6:c.515T>C	NP_079236.3:p.Leu172Pro
NR_136715.2:n.959T>C
NM_001386393.1:c.1058T>C MANE Select	NP_001373322.1:p.Leu353Pro
NM_153638.4:c.1388T>C	NP_705902.2:p.Leu463Pro
NM_153640.4:c.515T>C	NP_705904.1:p.Leu172Pro