Canonical Allele Identifier: CA2250714

Gene: FANCD2 FANCD2OS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10101203G>A , CM000665.2:g.10101203G>A	GRCh38
NC_000003.11:g.10142887G>A , CM000665.1:g.10142887G>A	GRCh37
NC_000003.10:g.10117887G>A	NCBI36
NG_007311.1:g.79775G>A , LRG_306:g.79775G>A
NG_042053.1:g.12029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675286.1:c.4297G>A (FANCD2) MANE Select	ENSP00000502379.1:p.Glu1433Lys
ENST00000676013.1:c.4186G>A (FANCD2)	ENSP00000501999.1:p.Glu1396Lys
ENST00000383807.5:c.4297G>A (FANCD2)	ENSP00000373318.1:p.Glu1433Lys
ENST00000419585.5:c.4297G>A (FANCD2)	ENSP00000398754.1:p.Glu1433Lys
ENST00000421731.5:c.2702G>A (FANCD2)
ENST00000431315.5:n.71-6313C>T (FANCD2OS)
ENST00000470028.1:n.370G>A (FANCD2)
ENST00000524279.1:c.*43+2995C>T (FANCD2OS)	ENSP00000429663.1:n.*43+2995C>T
NM_001018115.1:c.4297G>A , LRG_306t1:c.4297G>A (FANCD2)	NP_001018125.1:p.Glu1433Lys
NM_173472.1:c.*43+2995C>T (FANCD2OS)	NP_775743.1:n.*43+2995C>T
XM_005264946.2:c.4297G>A (FANCD2)	XP_005265003.1:p.Glu1433Lys
NM_001018115.2:c.4297G>A (FANCD2)	NP_001018125.1:p.Glu1433Lys
NM_001319984.1:c.4297G>A (FANCD2)	NP_001306913.1:p.Glu1433Lys
NM_001018115.3:c.4297G>A (FANCD2) MANE Select	NP_001018125.1:p.Glu1433Lys
NM_001319984.2:c.4297G>A (FANCD2)	NP_001306913.1:p.Glu1433Lys
NM_001374253.1:c.4186G>A (FANCD2)	NP_001361182.1:p.Glu1396Lys
NM_173472.2:c.*43+2995C>T (FANCD2OS)	NP_775743.1:n.*43+2995C>T