Canonical Allele Identifier: CA2651768503

Gene: PANK2

Linked Data

• gnomAD v4: 20-3912333-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912333C>A , CM000682.2:g.3912333C>A	GRCh38
NC_000020.10:g.3892980C>A , CM000682.1:g.3892980C>A	GRCh37
NC_000020.9:g.3840980C>A	NCBI36
NG_008131.3:g.28495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.906-125C>A MANE Select	ENSP00000477429.2:n.906-125C>A
ENST00000316562.9:c.1236-125C>A	ENSP00000313377.4:n.1236-125C>A
ENST00000336066.8:c.*247-125C>A	ENSP00000477229.2:n.*247-125C>A
ENST00000610179.6:c.906-125C>A	ENSP00000477429.2:n.906-125C>A
ENST00000643504.2:c.*536-125C>A	ENSP00000495157.2:n.*536-125C>A
ENST00000646394.1:c.733-125C>A
ENST00000316562.8:c.1236-125C>A	ENSP00000313377.4:n.1236-125C>A
ENST00000336066.7:c.*247-125C>A	ENSP00000477229.1:n.*247-125C>A
ENST00000464452.1:n.471-125C>A
ENST00000495692.5:c.-73-125C>A	ENSP00000476745.1:n.-73-125C>A
ENST00000497424.5:c.363-125C>A	ENSP00000417609.1:n.363-125C>A
ENST00000610179.5:c.867-125C>A	ENSP00000477429.1:n.867-125C>A
ENST00000621507.1:c.363-125C>A	ENSP00000481523.1:n.363-125C>A
NM_024960.4:c.363-125C>A	NP_079236.3:n.363-125C>A
NM_153638.2:c.1236-125C>A	NP_705902.2:n.1236-125C>A
NM_153640.2:c.363-125C>A	NP_705904.1:n.363-125C>A
XM_005260835.2:c.621-125C>A	XP_005260892.1:n.621-125C>A
XM_005260836.3:c.363-125C>A	XP_005260893.3:n.363-125C>A
XM_006723631.1:c.363-125C>A	XP_006723694.1:n.363-125C>A
XM_011529364.1:c.1235+1503C>A	XP_011527666.1:n.1235+1503C>A
NM_001324191.1:c.363-125C>A	NP_001311120.1:n.363-125C>A
NM_001324193.1:c.-73-125C>A	NP_001311122.1:n.-73-125C>A
NM_024960.5:c.363-125C>A	NP_079236.3:n.363-125C>A
NM_153638.3:c.1236-125C>A	NP_705902.2:n.1236-125C>A
NM_153640.3:c.363-125C>A	NP_705904.1:n.363-125C>A
NR_136715.1:n.1260-125C>A
XM_005260835.3:c.621-125C>A	XP_005260892.1:n.621-125C>A
XM_005260836.4:c.363-125C>A	XP_005260893.3:n.363-125C>A
XM_011529364.3:c.1235+1503C>A	XP_011527666.1:n.1235+1503C>A
XM_017028077.2:c.-73-125C>A	XP_016883566.1:n.-73-125C>A
XM_017028078.2:c.-73-125C>A	XP_016883567.1:n.-73-125C>A
XM_017028079.2:c.-73-125C>A	XP_016883568.1:n.-73-125C>A
XM_024452002.1:c.-73-125C>A	XP_024307770.1:n.-73-125C>A
XR_002958533.1:n.2024-125C>A
NM_001324191.2:c.363-125C>A	NP_001311120.1:n.363-125C>A
NM_001324193.2:c.-73-125C>A	NP_001311122.1:n.-73-125C>A
NM_024960.6:c.363-125C>A	NP_079236.3:n.363-125C>A
NR_136715.2:n.807-125C>A
NM_001386393.1:c.906-125C>A MANE Select	NP_001373322.1:n.906-125C>A
NM_153638.4:c.1236-125C>A	NP_705902.2:n.1236-125C>A
NM_153640.4:c.363-125C>A	NP_705904.1:n.363-125C>A