Canonical Allele Identifier: CA408119247

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3897587A>C (hg19) ; chr20:g.3916940A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916940A>C , CM000682.2:g.3916940A>C	GRCh38
NC_000020.10:g.3897587A>C , CM000682.1:g.3897587A>C	GRCh37
NC_000020.9:g.3845587A>C	NCBI36
NG_008131.3:g.33102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1096A>C MANE Select	ENSP00000477429.2:p.Met366Leu
ENST00000316562.9:c.1426A>C	ENSP00000313377.4:p.Met476Leu
ENST00000336066.8:c.*437A>C	ENSP00000477229.2:n.*437A>C
ENST00000610179.6:c.1096A>C	ENSP00000477429.2:p.Met366Leu
ENST00000643504.2:c.*726A>C	ENSP00000495157.2:n.*726A>C
ENST00000646394.1:c.923A>C
ENST00000316562.8:c.1426A>C	ENSP00000313377.4:p.Met476Leu
ENST00000336066.7:c.*437A>C	ENSP00000477229.1:n.*437A>C
ENST00000464452.1:n.661A>C
ENST00000495692.5:c.118A>C	ENSP00000476745.1:p.Met40Leu
ENST00000497424.5:c.553A>C	ENSP00000417609.1:p.Met185Leu
ENST00000610179.5:c.1057A>C	ENSP00000477429.1:p.Met353Leu
ENST00000621507.1:c.553A>C	ENSP00000481523.1:p.Met185Leu
NM_024960.4:c.553A>C	NP_079236.3:p.Met185Leu
NM_153638.2:c.1426A>C	NP_705902.2:p.Met476Leu
NM_153640.2:c.553A>C	NP_705904.1:p.Met185Leu
XM_005260835.2:c.811A>C	XP_005260892.1:p.Met271Leu
XM_005260836.3:c.553A>C	XP_005260893.3:p.Met185Leu
XM_006723631.1:c.553A>C	XP_006723694.1:p.Met185Leu
XM_011529364.1:c.1249A>C	XP_011527666.1:p.Met417Leu
NM_001324191.1:c.553A>C	NP_001311120.1:p.Met185Leu
NM_001324193.1:c.118A>C	NP_001311122.1:p.Met40Leu
NM_024960.5:c.553A>C	NP_079236.3:p.Met185Leu
NM_153638.3:c.1426A>C	NP_705902.2:p.Met476Leu
NM_153640.3:c.553A>C	NP_705904.1:p.Met185Leu
NR_136715.1:n.1450A>C
XM_005260835.3:c.811A>C	XP_005260892.1:p.Met271Leu
XM_005260836.4:c.553A>C	XP_005260893.3:p.Met185Leu
XM_011529364.3:c.1249A>C	XP_011527666.1:p.Met417Leu
XM_017028077.2:c.118A>C	XP_016883566.1:p.Met40Leu
XM_017028078.2:c.118A>C	XP_016883567.1:p.Met40Leu
XM_017028079.2:c.118A>C	XP_016883568.1:p.Met40Leu
XM_024452002.1:c.118A>C	XP_024307770.1:p.Met40Leu
XR_002958533.1:n.2214A>C
NM_001324191.2:c.553A>C	NP_001311120.1:p.Met185Leu
NM_001324193.2:c.118A>C	NP_001311122.1:p.Met40Leu
NM_024960.6:c.553A>C	NP_079236.3:p.Met185Leu
NR_136715.2:n.997A>C
NM_001386393.1:c.1096A>C MANE Select	NP_001373322.1:p.Met366Leu
NM_153638.4:c.1426A>C	NP_705902.2:p.Met476Leu
NM_153640.4:c.553A>C	NP_705904.1:p.Met185Leu