Canonical Allele Identifier: CA346276544

Gene: FEZ2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.36598007C>G , CM000664.2:g.36598007C>G	GRCh38
NC_000002.11:g.36825150C>G , CM000664.1:g.36825150C>G	GRCh37
NC_000002.10:g.36678654C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005102.3:c.136G>C MANE Select	NP_005093.2:p.Gly46Arg
ENST00000405912.8:c.136G>C MANE Select	ENSP00000385112.3:p.Gly46Arg
NM_001042548.1:c.136G>C	NP_001036013.1:p.Gly46Arg
NM_001042548.2:c.136G>C	NP_001036013.1:p.Gly46Arg
NM_005102.2:c.136G>C	NP_005093.2:p.Gly46Arg
ENST00000357996.4:c.-37-6996G>C	ENSP00000350685.4:n.-37-6996G>C
ENST00000379245.8:c.136G>C	ENSP00000368547.4:p.Gly46Arg
ENST00000405912.7:c.136G>C	ENSP00000385112.3:p.Gly46Arg
ENST00000451623.5:c.136G>C	ENSP00000390985.1:p.Gly46Arg
XR_244972.3:n.184G>C