Canonical Allele Identifier: CA2651768552

Gene: PANK2

Linked Data

• ClinVar Variation Id: 2919467
• ClinVar RCV Id: RCV003612998
• gnomAD v4: 20-3912445-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912445T>G , CM000682.2:g.3912445T>G	GRCh38
NC_000020.10:g.3893092T>G , CM000682.1:g.3893092T>G	GRCh37
NC_000020.9:g.3841092T>G	NCBI36
NG_008131.3:g.28607T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.906-13T>G MANE Select	ENSP00000477429.2:n.906-13T>G
ENST00000316562.9:c.1236-13T>G	ENSP00000313377.4:n.1236-13T>G
ENST00000336066.8:c.*247-13T>G	ENSP00000477229.2:n.*247-13T>G
ENST00000610179.6:c.906-13T>G	ENSP00000477429.2:n.906-13T>G
ENST00000643504.2:c.*536-13T>G	ENSP00000495157.2:n.*536-13T>G
ENST00000646394.1:c.733-13T>G
ENST00000316562.8:c.1236-13T>G	ENSP00000313377.4:n.1236-13T>G
ENST00000336066.7:c.*247-13T>G	ENSP00000477229.1:n.*247-13T>G
ENST00000464452.1:n.471-13T>G
ENST00000495692.5:c.-73-13T>G	ENSP00000476745.1:n.-73-13T>G
ENST00000497424.5:c.363-13T>G	ENSP00000417609.1:n.363-13T>G
ENST00000610179.5:c.867-13T>G	ENSP00000477429.1:n.867-13T>G
ENST00000621507.1:c.363-13T>G	ENSP00000481523.1:n.363-13T>G
NM_024960.4:c.363-13T>G	NP_079236.3:n.363-13T>G
NM_153638.2:c.1236-13T>G	NP_705902.2:n.1236-13T>G
NM_153640.2:c.363-13T>G	NP_705904.1:n.363-13T>G
XM_005260835.2:c.621-13T>G	XP_005260892.1:n.621-13T>G
XM_005260836.3:c.363-13T>G	XP_005260893.3:n.363-13T>G
XM_006723631.1:c.363-13T>G	XP_006723694.1:n.363-13T>G
XM_011529364.1:c.1235+1615T>G	XP_011527666.1:n.1235+1615T>G
NM_001324191.1:c.363-13T>G	NP_001311120.1:n.363-13T>G
NM_001324193.1:c.-73-13T>G	NP_001311122.1:n.-73-13T>G
NM_024960.5:c.363-13T>G	NP_079236.3:n.363-13T>G
NM_153638.3:c.1236-13T>G	NP_705902.2:n.1236-13T>G
NM_153640.3:c.363-13T>G	NP_705904.1:n.363-13T>G
NR_136715.1:n.1260-13T>G
XM_005260835.3:c.621-13T>G	XP_005260892.1:n.621-13T>G
XM_005260836.4:c.363-13T>G	XP_005260893.3:n.363-13T>G
XM_011529364.3:c.1235+1615T>G	XP_011527666.1:n.1235+1615T>G
XM_017028077.2:c.-73-13T>G	XP_016883566.1:n.-73-13T>G
XM_017028078.2:c.-73-13T>G	XP_016883567.1:n.-73-13T>G
XM_017028079.2:c.-73-13T>G	XP_016883568.1:n.-73-13T>G
XM_024452002.1:c.-73-13T>G	XP_024307770.1:n.-73-13T>G
XR_002958533.1:n.2024-13T>G
NM_001324191.2:c.363-13T>G	NP_001311120.1:n.363-13T>G
NM_001324193.2:c.-73-13T>G	NP_001311122.1:n.-73-13T>G
NM_024960.6:c.363-13T>G	NP_079236.3:n.363-13T>G
NR_136715.2:n.807-13T>G
NM_001386393.1:c.906-13T>G MANE Select	NP_001373322.1:n.906-13T>G
NM_153638.4:c.1236-13T>G	NP_705902.2:n.1236-13T>G
NM_153640.4:c.363-13T>G	NP_705904.1:n.363-13T>G