Canonical Allele Identifier: CA408119242

Gene: PANK2

Linked Data

• ClinVar Variation Id: 2138326
• ClinVar RCV Id: RCV003064597
• MyVariant Identifiers: chr20:g.3897585T>C (hg19) ; chr20:g.3916938T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916938T>C , CM000682.2:g.3916938T>C	GRCh38
NC_000020.10:g.3897585T>C , CM000682.1:g.3897585T>C	GRCh37
NC_000020.9:g.3845585T>C	NCBI36
NG_008131.3:g.33100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1094T>C MANE Select	ENSP00000477429.2:p.Met365Thr
ENST00000316562.9:c.1424T>C	ENSP00000313377.4:p.Met475Thr
ENST00000336066.8:c.*435T>C	ENSP00000477229.2:n.*435T>C
ENST00000610179.6:c.1094T>C	ENSP00000477429.2:p.Met365Thr
ENST00000643504.2:c.*724T>C	ENSP00000495157.2:n.*724T>C
ENST00000646394.1:c.921T>C
ENST00000316562.8:c.1424T>C	ENSP00000313377.4:p.Met475Thr
ENST00000336066.7:c.*435T>C	ENSP00000477229.1:n.*435T>C
ENST00000464452.1:n.659T>C
ENST00000495692.5:c.116T>C	ENSP00000476745.1:p.Met39Thr
ENST00000497424.5:c.551T>C	ENSP00000417609.1:p.Met184Thr
ENST00000610179.5:c.1055T>C	ENSP00000477429.1:p.Met352Thr
ENST00000621507.1:c.551T>C	ENSP00000481523.1:p.Met184Thr
NM_024960.4:c.551T>C	NP_079236.3:p.Met184Thr
NM_153638.2:c.1424T>C	NP_705902.2:p.Met475Thr
NM_153640.2:c.551T>C	NP_705904.1:p.Met184Thr
XM_005260835.2:c.809T>C	XP_005260892.1:p.Met270Thr
XM_005260836.3:c.551T>C	XP_005260893.3:p.Met184Thr
XM_006723631.1:c.551T>C	XP_006723694.1:p.Met184Thr
XM_011529364.1:c.1247T>C	XP_011527666.1:p.Met416Thr
NM_001324191.1:c.551T>C	NP_001311120.1:p.Met184Thr
NM_001324193.1:c.116T>C	NP_001311122.1:p.Met39Thr
NM_024960.5:c.551T>C	NP_079236.3:p.Met184Thr
NM_153638.3:c.1424T>C	NP_705902.2:p.Met475Thr
NM_153640.3:c.551T>C	NP_705904.1:p.Met184Thr
NR_136715.1:n.1448T>C
XM_005260835.3:c.809T>C	XP_005260892.1:p.Met270Thr
XM_005260836.4:c.551T>C	XP_005260893.3:p.Met184Thr
XM_011529364.3:c.1247T>C	XP_011527666.1:p.Met416Thr
XM_017028077.2:c.116T>C	XP_016883566.1:p.Met39Thr
XM_017028078.2:c.116T>C	XP_016883567.1:p.Met39Thr
XM_017028079.2:c.116T>C	XP_016883568.1:p.Met39Thr
XM_024452002.1:c.116T>C	XP_024307770.1:p.Met39Thr
XR_002958533.1:n.2212T>C
NM_001324191.2:c.551T>C	NP_001311120.1:p.Met184Thr
NM_001324193.2:c.116T>C	NP_001311122.1:p.Met39Thr
NM_024960.6:c.551T>C	NP_079236.3:p.Met184Thr
NR_136715.2:n.995T>C
NM_001386393.1:c.1094T>C MANE Select	NP_001373322.1:p.Met365Thr
NM_153638.4:c.1424T>C	NP_705902.2:p.Met475Thr
NM_153640.4:c.551T>C	NP_705904.1:p.Met184Thr