Canonical Allele Identifier: CA351757446

Gene: FANCD2 FANCD2OS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10095276T>G , CM000665.2:g.10095276T>G	GRCh38
NC_000003.11:g.10136960T>G , CM000665.1:g.10136960T>G	GRCh37
NC_000003.10:g.10111960T>G	NCBI36
NG_007311.1:g.73848T>G , LRG_306:g.73848T>G
NG_042053.1:g.17956A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.4038+2T>G (FANCD2) MANE Select	NP_001018125.1:n.4038+2T>G
ENST00000675286.1:c.4038+2T>G (FANCD2) MANE Select	ENSP00000502379.1:n.4038+2T>G
NM_001018115.1:c.4038+2T>G , LRG_306t1:c.4038+2T>G (FANCD2)	NP_001018125.1:n.4038+2T>G
NM_001018115.2:c.4038+2T>G (FANCD2)	NP_001018125.1:n.4038+2T>G
NM_001319984.1:c.4038+2T>G (FANCD2)	NP_001306913.1:n.4038+2T>G
NM_001319984.2:c.4038+2T>G (FANCD2)	NP_001306913.1:n.4038+2T>G
NM_001374253.1:c.3927+2T>G (FANCD2)	NP_001361182.1:n.3927+2T>G
NM_001374254.1:c.3999+2T>G (FANCD2)	NP_001361183.1:n.3999+2T>G
NM_033084.3:c.4038+2T>G , LRG_306t2:c.4038+2T>G (FANCD2)	NP_149075.2:n.4038+2T>G
NM_033084.4:c.4038+2T>G (FANCD2)	NP_149075.2:n.4038+2T>G
NM_033084.6:c.4038+2T>G (FANCD2)	NP_149075.2:n.4038+2T>G
NM_173472.1:c.*43+8922A>C (FANCD2OS)	NP_775743.1:n.*43+8922A>C
NM_173472.2:c.*43+8922A>C (FANCD2OS)	NP_775743.1:n.*43+8922A>C
ENST00000287647.7:c.4038+2T>G (FANCD2)	ENSP00000287647.3:n.4038+2T>G
ENST00000383807.5:c.4038+2T>G (FANCD2)	ENSP00000373318.1:n.4038+2T>G
ENST00000419585.5:c.4038+2T>G (FANCD2)	ENSP00000398754.1:n.4038+2T>G
ENST00000421731.5:c.2443+2T>G (FANCD2)
ENST00000431315.5:n.71-386A>C (FANCD2OS)
ENST00000436517.5:n.72A>C (FANCD2OS)
ENST00000470028.1:n.111+2T>G (FANCD2)
ENST00000524279.1:c.*43+8922A>C (FANCD2OS)	ENSP00000429663.1:n.*43+8922A>C
ENST00000676013.1:c.3927+2T>G (FANCD2)	ENSP00000501999.1:n.3927+2T>G
ENST00000681997.1:n.3122+2T>G (FANCD2)
ENST00000683263.1:n.3037+2T>G (FANCD2)
ENST00000683312.1:n.2540T>G (FANCD2)
ENST00000683933.1:n.796+2T>G (FANCD2)
XM_005264946.2:c.4038+2T>G (FANCD2)	XP_005265003.1:n.4038+2T>G
XM_005264947.2:c.2043+2T>G (FANCD2)	XP_005265004.1:n.2043+2T>G
XM_006713021.2:c.4038+2T>G (FANCD2)	XP_006713084.1:n.4038+2T>G
XM_006713023.2:c.3999+2T>G (FANCD2)	XP_006713086.1:n.3999+2T>G
XM_006713024.2:c.3921+2T>G (FANCD2)	XP_006713087.1:n.3921+2T>G
XM_011533480.1:c.2889+2T>G (FANCD2)	XP_011531782.1:n.2889+2T>G