Canonical Allele Identifier: CA6511374

Gene: ABCD2 EGR1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39553926C>T , CM000674.2:g.39553926C>T	GRCh38
NC_000012.11:g.39947728C>T , CM000674.1:g.39947728C>T	GRCh37
NC_000012.10:g.38233995C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005164.4:c.2209G>A (EGR1) MANE Select	NP_005155.1:p.Asp737Asn
ENST00000308666.4:c.2209G>A (ABCD2) MANE Select	ENSP00000310688.3:p.Asp737Asn
NM_005164.3:c.2209G>A (EGR1)	NP_005155.1:p.Asp737Asn
ENST00000308666.3:c.2209G>A (ABCD2)	ENSP00000310688.3:p.Asp737Asn
XM_011538027.1:c.2209G>A (EGR1)	XP_011536329.1:p.Asp737Asn
XM_011538027.3:c.2209G>A (EGR1)	XP_011536329.1:p.Asp737Asn
XM_017018992.2:c.2003+19790G>A (EGR1)	XP_016874481.1:n.2003+19790G>A
XR_001748622.2:n.3127G>A (EGR1)
XR_001748623.2:n.3213G>A (EGR1)