Canonical Allele Identifier: CA2250550

Gene: FANCD2 FANCD2OS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10093312G>A , CM000665.2:g.10093312G>A	GRCh38
NC_000003.11:g.10134996G>A , CM000665.1:g.10134996G>A	GRCh37
NC_000003.10:g.10109996G>A	NCBI36
NG_007311.1:g.71884G>A , LRG_306:g.71884G>A
NG_042053.1:g.19920C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.3877G>A (FANCD2) MANE Select	NP_001018125.1:p.Val1293Ile
ENST00000675286.1:c.3877G>A (FANCD2) MANE Select	ENSP00000502379.1:p.Val1293Ile
NM_001018115.1:c.3877G>A , LRG_306t1:c.3877G>A (FANCD2)	NP_001018125.1:p.Val1293Ile
NM_001018115.2:c.3877G>A (FANCD2)	NP_001018125.1:p.Val1293Ile
NM_001319984.1:c.3877G>A (FANCD2)	NP_001306913.1:p.Val1293Ile
NM_001319984.2:c.3877G>A (FANCD2)	NP_001306913.1:p.Val1293Ile
NM_001374253.1:c.3766G>A (FANCD2)	NP_001361182.1:p.Val1256Ile
NM_001374254.1:c.3850-977G>A (FANCD2)	NP_001361183.1:n.3850-977G>A
NM_033084.3:c.3877G>A , LRG_306t2:c.3877G>A (FANCD2)	NP_149075.2:p.Val1293Ile
NM_033084.4:c.3877G>A (FANCD2)	NP_149075.2:p.Val1293Ile
NM_033084.6:c.3877G>A (FANCD2)	NP_149075.2:p.Val1293Ile
NM_173472.1:c.*43+10886C>T (FANCD2OS)	NP_775743.1:n.*43+10886C>T
NM_173472.2:c.*43+10886C>T (FANCD2OS)	NP_775743.1:n.*43+10886C>T
ENST00000287647.7:c.3877G>A (FANCD2)	ENSP00000287647.3:p.Val1293Ile
ENST00000383807.5:c.3877G>A (FANCD2)	ENSP00000373318.1:p.Val1293Ile
ENST00000419585.5:c.3877G>A (FANCD2)	ENSP00000398754.1:p.Val1293Ile
ENST00000421731.5:c.2282G>A (FANCD2)
ENST00000431315.5:n.95+1554C>T (FANCD2OS)
ENST00000436517.5:n.116+1554C>T (FANCD2OS)
ENST00000470028.1:n.25G>A (FANCD2)
ENST00000524279.1:c.*43+10886C>T (FANCD2OS)	ENSP00000429663.1:n.*43+10886C>T
ENST00000676013.1:c.3766G>A (FANCD2)	ENSP00000501999.1:p.Val1256Ile
ENST00000681997.1:n.2961G>A (FANCD2)
ENST00000683263.1:n.2876G>A (FANCD2)
ENST00000683312.1:n.576G>A (FANCD2)
ENST00000683933.1:n.647-977G>A (FANCD2)
XM_005264946.2:c.3877G>A (FANCD2)	XP_005265003.1:p.Val1293Ile
XM_005264947.2:c.1882G>A (FANCD2)	XP_005265004.1:p.Val628Ile
XM_006713021.2:c.3877G>A (FANCD2)	XP_006713084.1:p.Val1293Ile
XM_006713023.2:c.3850-977G>A (FANCD2)	XP_006713086.1:n.3850-977G>A
XM_006713024.2:c.3760G>A (FANCD2)	XP_006713087.1:p.Val1254Ile
XM_011533480.1:c.2728G>A (FANCD2)	XP_011531782.1:p.Val910Ile