Canonical Allele Identifier: CA2651768498

Gene: PANK2

Linked Data

• gnomAD v4: 20-3912324-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912324G>T , CM000682.2:g.3912324G>T	GRCh38
NC_000020.10:g.3892971G>T , CM000682.1:g.3892971G>T	GRCh37
NC_000020.9:g.3840971G>T	NCBI36
NG_008131.3:g.28486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.906-134G>T MANE Select	ENSP00000477429.2:n.906-134G>T
ENST00000316562.9:c.1236-134G>T	ENSP00000313377.4:n.1236-134G>T
ENST00000336066.8:c.*247-134G>T	ENSP00000477229.2:n.*247-134G>T
ENST00000610179.6:c.906-134G>T	ENSP00000477429.2:n.906-134G>T
ENST00000643504.2:c.*536-134G>T	ENSP00000495157.2:n.*536-134G>T
ENST00000646394.1:c.733-134G>T
ENST00000316562.8:c.1236-134G>T	ENSP00000313377.4:n.1236-134G>T
ENST00000336066.7:c.*247-134G>T	ENSP00000477229.1:n.*247-134G>T
ENST00000464452.1:n.471-134G>T
ENST00000495692.5:c.-73-134G>T	ENSP00000476745.1:n.-73-134G>T
ENST00000497424.5:c.363-134G>T	ENSP00000417609.1:n.363-134G>T
ENST00000610179.5:c.867-134G>T	ENSP00000477429.1:n.867-134G>T
ENST00000621507.1:c.363-134G>T	ENSP00000481523.1:n.363-134G>T
NM_024960.4:c.363-134G>T	NP_079236.3:n.363-134G>T
NM_153638.2:c.1236-134G>T	NP_705902.2:n.1236-134G>T
NM_153640.2:c.363-134G>T	NP_705904.1:n.363-134G>T
XM_005260835.2:c.621-134G>T	XP_005260892.1:n.621-134G>T
XM_005260836.3:c.363-134G>T	XP_005260893.3:n.363-134G>T
XM_006723631.1:c.363-134G>T	XP_006723694.1:n.363-134G>T
XM_011529364.1:c.1235+1494G>T	XP_011527666.1:n.1235+1494G>T
NM_001324191.1:c.363-134G>T	NP_001311120.1:n.363-134G>T
NM_001324193.1:c.-73-134G>T	NP_001311122.1:n.-73-134G>T
NM_024960.5:c.363-134G>T	NP_079236.3:n.363-134G>T
NM_153638.3:c.1236-134G>T	NP_705902.2:n.1236-134G>T
NM_153640.3:c.363-134G>T	NP_705904.1:n.363-134G>T
NR_136715.1:n.1260-134G>T
XM_005260835.3:c.621-134G>T	XP_005260892.1:n.621-134G>T
XM_005260836.4:c.363-134G>T	XP_005260893.3:n.363-134G>T
XM_011529364.3:c.1235+1494G>T	XP_011527666.1:n.1235+1494G>T
XM_017028077.2:c.-73-134G>T	XP_016883566.1:n.-73-134G>T
XM_017028078.2:c.-73-134G>T	XP_016883567.1:n.-73-134G>T
XM_017028079.2:c.-73-134G>T	XP_016883568.1:n.-73-134G>T
XM_024452002.1:c.-73-134G>T	XP_024307770.1:n.-73-134G>T
XR_002958533.1:n.2024-134G>T
NM_001324191.2:c.363-134G>T	NP_001311120.1:n.363-134G>T
NM_001324193.2:c.-73-134G>T	NP_001311122.1:n.-73-134G>T
NM_024960.6:c.363-134G>T	NP_079236.3:n.363-134G>T
NR_136715.2:n.807-134G>T
NM_001386393.1:c.906-134G>T MANE Select	NP_001373322.1:n.906-134G>T
NM_153638.4:c.1236-134G>T	NP_705902.2:n.1236-134G>T
NM_153640.4:c.363-134G>T	NP_705904.1:n.363-134G>T