Canonical Allele Identifier: CA351750992

Gene: FANCD2 FANCD2OS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10085837C>T , CM000665.2:g.10085837C>T	GRCh38
NC_000003.11:g.10127521C>T , CM000665.1:g.10127521C>T	GRCh37
NC_000003.10:g.10102521C>T	NCBI36
NG_007311.1:g.64409C>T , LRG_306:g.64409C>T
NG_042053.1:g.27395G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.3250C>T (FANCD2) MANE Select	NP_001018125.1:p.Gln1084Ter
ENST00000675286.1:c.3250C>T (FANCD2) MANE Select	ENSP00000502379.1:p.Gln1084Ter
NM_001018115.1:c.3250C>T , LRG_306t1:c.3250C>T (FANCD2)	NP_001018125.1:p.Gln1084Ter
NM_001018115.2:c.3250C>T (FANCD2)	NP_001018125.1:p.Gln1084Ter
NM_001319984.1:c.3250C>T (FANCD2)	NP_001306913.1:p.Gln1084Ter
NM_001319984.2:c.3250C>T (FANCD2)	NP_001306913.1:p.Gln1084Ter
NM_001374253.1:c.3139C>T (FANCD2)	NP_001361182.1:p.Gln1047Ter
NM_001374254.1:c.3250C>T (FANCD2)	NP_001361183.1:p.Gln1084Ter
NM_033084.3:c.3250C>T , LRG_306t2:c.3250C>T (FANCD2)	NP_149075.2:p.Gln1084Ter
NM_033084.4:c.3250C>T (FANCD2)	NP_149075.2:p.Gln1084Ter
NM_033084.6:c.3250C>T (FANCD2)	NP_149075.2:p.Gln1084Ter
NM_173472.1:c.*44-4306G>A (FANCD2OS)	NP_775743.1:n.*44-4306G>A
NM_173472.2:c.*44-4306G>A (FANCD2OS)	NP_775743.1:n.*44-4306G>A
ENST00000287647.7:c.3250C>T (FANCD2)	ENSP00000287647.3:p.Gln1084Ter
ENST00000383807.5:c.3250C>T (FANCD2)	ENSP00000373318.1:p.Gln1084Ter
ENST00000419585.5:c.3250C>T (FANCD2)	ENSP00000398754.1:p.Gln1084Ter
ENST00000421731.5:c.1749C>T (FANCD2)
ENST00000431315.5:n.204+1295G>A (FANCD2OS)
ENST00000436517.5:n.225+1295G>A (FANCD2OS)
ENST00000524279.1:c.*44-4306G>A (FANCD2OS)	ENSP00000429663.1:n.*44-4306G>A
ENST00000676013.1:c.3139C>T (FANCD2)	ENSP00000501999.1:p.Gln1047Ter
ENST00000681997.1:n.2334C>T (FANCD2)
ENST00000683263.1:n.2249C>T (FANCD2)
ENST00000683933.1:n.264-2612C>T (FANCD2)
XM_005264946.2:c.3250C>T (FANCD2)	XP_005265003.1:p.Gln1084Ter
XM_005264947.2:c.1255C>T (FANCD2)	XP_005265004.1:p.Gln419Ter
XM_006713021.2:c.3250C>T (FANCD2)	XP_006713084.1:p.Gln1084Ter
XM_006713023.2:c.3250C>T (FANCD2)	XP_006713086.1:p.Gln1084Ter
XM_006713024.2:c.3133C>T (FANCD2)	XP_006713087.1:p.Gln1045Ter
XM_011533479.1:c.3250C>T (FANCD2)	XP_011531781.1:p.Gln1084Ter
XM_011533480.1:c.2101C>T (FANCD2)	XP_011531782.1:p.Gln701Ter