Canonical Allele Identifier: CA2250305

Gene: FANCD2 FANCD2OS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10081477G>C , CM000665.2:g.10081477G>C	GRCh38
NC_000003.11:g.10123161G>C , CM000665.1:g.10123161G>C	GRCh37
NC_000003.10:g.10098161G>C	NCBI36
NG_007311.1:g.60049G>C , LRG_306:g.60049G>C
NG_042053.1:g.31755C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.3224+13G>C (FANCD2) MANE Select	NP_001018125.1:n.3224+13G>C
ENST00000675286.1:c.3224+13G>C (FANCD2) MANE Select	ENSP00000502379.1:n.3224+13G>C
NM_001018115.1:c.3224+13G>C , LRG_306t1:c.3224+13G>C (FANCD2)	NP_001018125.1:n.3224+13G>C
NM_001018115.2:c.3224+13G>C (FANCD2)	NP_001018125.1:n.3224+13G>C
NM_001319984.1:c.3224+13G>C (FANCD2)	NP_001306913.1:n.3224+13G>C
NM_001319984.2:c.3224+13G>C (FANCD2)	NP_001306913.1:n.3224+13G>C
NM_001374253.1:c.3113+13G>C (FANCD2)	NP_001361182.1:n.3113+13G>C
NM_001374254.1:c.3224+13G>C (FANCD2)	NP_001361183.1:n.3224+13G>C
NM_033084.3:c.3224+13G>C , LRG_306t2:c.3224+13G>C (FANCD2)	NP_149075.2:n.3224+13G>C
NM_033084.4:c.3224+13G>C (FANCD2)	NP_149075.2:n.3224+13G>C
NM_033084.6:c.3224+13G>C (FANCD2)	NP_149075.2:n.3224+13G>C
NM_173472.1:c.*98C>G (FANCD2OS)	NP_775743.1:n.*98C>G
NM_173472.2:c.*98C>G (FANCD2OS)	NP_775743.1:n.*98C>G
ENST00000287647.7:c.3224+13G>C (FANCD2)	ENSP00000287647.3:n.3224+13G>C
ENST00000383807.5:c.3224+13G>C (FANCD2)	ENSP00000373318.1:n.3224+13G>C
ENST00000419585.5:c.3224+13G>C (FANCD2)	ENSP00000398754.1:n.3224+13G>C
ENST00000421731.5:c.1723+13G>C (FANCD2)
ENST00000431315.5:n.259C>G (FANCD2OS)
ENST00000436517.5:n.280C>G (FANCD2OS)
ENST00000450616.5:n.260C>G (FANCD2OS)
ENST00000524279.1:c.*98C>G (FANCD2OS)	ENSP00000429663.1:n.*98C>G
ENST00000676013.1:c.3113+13G>C (FANCD2)	ENSP00000501999.1:n.3113+13G>C
ENST00000681997.1:n.2308+13G>C (FANCD2)
ENST00000683263.1:n.2223+13G>C (FANCD2)
ENST00000683933.1:n.263+13G>C (FANCD2)
XM_005264946.2:c.3224+13G>C (FANCD2)	XP_005265003.1:n.3224+13G>C
XM_005264947.2:c.1229+13G>C (FANCD2)	XP_005265004.1:n.1229+13G>C
XM_006713021.2:c.3224+13G>C (FANCD2)	XP_006713084.1:n.3224+13G>C
XM_006713023.2:c.3224+13G>C (FANCD2)	XP_006713086.1:n.3224+13G>C
XM_006713024.2:c.3107+13G>C (FANCD2)	XP_006713087.1:n.3107+13G>C
XM_011533479.1:c.3224+13G>C (FANCD2)	XP_011531781.1:n.3224+13G>C
XM_011533480.1:c.2075+13G>C (FANCD2)	XP_011531782.1:n.2075+13G>C