Canonical Allele Identifier: CA9750826

Gene: PANK2

Linked Data

• dbSNP Id: rs750274604
• ExAC: 20:3893283 T / C
• gnomAD v2: 20-3893283-T-C
• gnomAD v4: 20-3912636-T-C
• MyVariant Identifiers: chr20:g.3893283T>C (hg19) ; chr20:g.3912636T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912636T>C , CM000682.2:g.3912636T>C	GRCh38
NC_000020.10:g.3893283T>C , CM000682.1:g.3893283T>C	GRCh37
NC_000020.9:g.3841283T>C	NCBI36
NG_008131.3:g.28798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1082+2T>C MANE Select	ENSP00000477429.2:n.1082+2T>C
ENST00000316562.9:c.1412+2T>C	ENSP00000313377.4:n.1412+2T>C
ENST00000336066.8:c.*423+2T>C	ENSP00000477229.2:n.*423+2T>C
ENST00000610179.6:c.1082+2T>C	ENSP00000477429.2:n.1082+2T>C
ENST00000643504.2:c.*712+2T>C	ENSP00000495157.2:n.*712+2T>C
ENST00000646394.1:c.909+2T>C
ENST00000316562.8:c.1412+2T>C	ENSP00000313377.4:n.1412+2T>C
ENST00000336066.7:c.*423+2T>C	ENSP00000477229.1:n.*423+2T>C
ENST00000464452.1:n.647+2T>C
ENST00000495692.5:c.104+2T>C	ENSP00000476745.1:n.104+2T>C
ENST00000497424.5:c.539+2T>C	ENSP00000417609.1:n.539+2T>C
ENST00000610179.5:c.1043+2T>C	ENSP00000477429.1:n.1043+2T>C
ENST00000621507.1:c.539+2T>C	ENSP00000481523.1:n.539+2T>C
NM_024960.4:c.539+2T>C	NP_079236.3:n.539+2T>C
NM_153638.2:c.1412+2T>C	NP_705902.2:n.1412+2T>C
NM_153640.2:c.539+2T>C	NP_705904.1:n.539+2T>C
XM_005260835.2:c.797+2T>C	XP_005260892.1:n.797+2T>C
XM_005260836.3:c.539+2T>C	XP_005260893.3:n.539+2T>C
XM_006723631.1:c.539+2T>C	XP_006723694.1:n.539+2T>C
XM_011529364.1:c.1235+1806T>C	XP_011527666.1:n.1235+1806T>C
NM_001324191.1:c.539+2T>C	NP_001311120.1:n.539+2T>C
NM_001324193.1:c.104+2T>C	NP_001311122.1:n.104+2T>C
NM_024960.5:c.539+2T>C	NP_079236.3:n.539+2T>C
NM_153638.3:c.1412+2T>C	NP_705902.2:n.1412+2T>C
NM_153640.3:c.539+2T>C	NP_705904.1:n.539+2T>C
NR_136715.1:n.1436+2T>C
XM_005260835.3:c.797+2T>C	XP_005260892.1:n.797+2T>C
XM_005260836.4:c.539+2T>C	XP_005260893.3:n.539+2T>C
XM_011529364.3:c.1235+1806T>C	XP_011527666.1:n.1235+1806T>C
XM_017028077.2:c.104+2T>C	XP_016883566.1:n.104+2T>C
XM_017028078.2:c.104+2T>C	XP_016883567.1:n.104+2T>C
XM_017028079.2:c.104+2T>C	XP_016883568.1:n.104+2T>C
XM_024452002.1:c.104+2T>C	XP_024307770.1:n.104+2T>C
XR_002958533.1:n.2200+2T>C
NM_001324191.2:c.539+2T>C	NP_001311120.1:n.539+2T>C
NM_001324193.2:c.104+2T>C	NP_001311122.1:n.104+2T>C
NM_024960.6:c.539+2T>C	NP_079236.3:n.539+2T>C
NR_136715.2:n.983+2T>C
NM_001386393.1:c.1082+2T>C MANE Select	NP_001373322.1:n.1082+2T>C
NM_153638.4:c.1412+2T>C	NP_705902.2:n.1412+2T>C
NM_153640.4:c.539+2T>C	NP_705904.1:n.539+2T>C