Canonical Allele Identifier: CA351725341

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10039842T>G , CM000665.2:g.10039842T>G	GRCh38
NC_000003.11:g.10081526T>G , CM000665.1:g.10081526T>G	GRCh37
NC_000003.10:g.10056526T>G	NCBI36
NG_007311.1:g.18414T>G , LRG_306:g.18414T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.692T>G MANE Select	NP_001018125.1:p.Leu231Arg
ENST00000675286.1:c.692T>G MANE Select	ENSP00000502379.1:p.Leu231Arg
NM_001018115.1:c.692T>G , LRG_306t1:c.692T>G	NP_001018125.1:p.Leu231Arg
NM_001018115.2:c.692T>G	NP_001018125.1:p.Leu231Arg
NM_001319984.1:c.692T>G	NP_001306913.1:p.Leu231Arg
NM_001319984.2:c.692T>G	NP_001306913.1:p.Leu231Arg
NM_001374253.1:c.692T>G	NP_001361182.1:p.Leu231Arg
NM_001374254.1:c.692T>G	NP_001361183.1:p.Leu231Arg
NM_001374255.1:c.692T>G	NP_001361184.1:p.Leu231Arg
NM_033084.3:c.692T>G , LRG_306t2:c.692T>G	NP_149075.2:p.Leu231Arg
NM_033084.4:c.692T>G	NP_149075.2:p.Leu231Arg
NM_033084.6:c.692T>G	NP_149075.2:p.Leu231Arg
ENST00000287647.7:c.692T>G	ENSP00000287647.3:p.Leu231Arg
ENST00000383807.5:c.692T>G	ENSP00000373318.1:p.Leu231Arg
ENST00000419585.5:c.692T>G	ENSP00000398754.1:p.Leu231Arg
ENST00000431693.1:c.692T>G	ENSP00000399354.1:p.Leu231Arg
ENST00000438741.1:n.407T>G
ENST00000676013.1:c.692T>G	ENSP00000501999.1:p.Leu231Arg
ENST00000682647.1:c.*700T>G	ENSP00000506736.1:n.*700T>G
XM_005264946.2:c.692T>G	XP_005265003.1:p.Leu231Arg
XM_006713021.2:c.692T>G	XP_006713084.1:p.Leu231Arg
XM_006713023.2:c.692T>G	XP_006713086.1:p.Leu231Arg
XM_006713024.2:c.692T>G	XP_006713087.1:p.Leu231Arg
XM_011533479.1:c.692T>G	XP_011531781.1:p.Leu231Arg
XR_940391.1:n.812T>G