Canonical Allele Identifier: CA2249774

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10060401C>G , CM000665.2:g.10060401C>G	GRCh38
NC_000003.11:g.10102085C>G , CM000665.1:g.10102085C>G	GRCh37
NC_000003.10:g.10077085C>G	NCBI36
NG_007311.1:g.38973C>G , LRG_306:g.38973C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.1764C>G MANE Select	NP_001018125.1:p.Asp588Glu
ENST00000675286.1:c.1764C>G MANE Select	ENSP00000502379.1:p.Asp588Glu
NM_001018115.1:c.1764C>G , LRG_306t1:c.1764C>G	NP_001018125.1:p.Asp588Glu
NM_001018115.2:c.1764C>G	NP_001018125.1:p.Asp588Glu
NM_001319984.1:c.1764C>G	NP_001306913.1:p.Asp588Glu
NM_001319984.2:c.1764C>G	NP_001306913.1:p.Asp588Glu
NM_001374253.1:c.1653C>G	NP_001361182.1:p.Asp551Glu
NM_001374254.1:c.1764C>G	NP_001361183.1:p.Asp588Glu
NM_033084.3:c.1764C>G , LRG_306t2:c.1764C>G	NP_149075.2:p.Asp588Glu
NM_033084.4:c.1764C>G	NP_149075.2:p.Asp588Glu
NM_033084.6:c.1764C>G	NP_149075.2:p.Asp588Glu
ENST00000287647.7:c.1764C>G	ENSP00000287647.3:p.Asp588Glu
ENST00000383807.5:c.1764C>G	ENSP00000373318.1:p.Asp588Glu
ENST00000419585.5:c.1764C>G	ENSP00000398754.1:p.Asp588Glu
ENST00000421731.5:c.263C>G
ENST00000676013.1:c.1653C>G	ENSP00000501999.1:p.Asp551Glu
ENST00000681997.1:n.848C>G
ENST00000682647.1:c.*1684C>G	ENSP00000506736.1:n.*1684C>G
ENST00000683263.1:n.763C>G
XM_005264946.2:c.1764C>G	XP_005265003.1:p.Asp588Glu
XM_005264947.2:c.-158C>G	XP_005265004.1:n.-158C>G
XM_006713021.2:c.1764C>G	XP_006713084.1:p.Asp588Glu
XM_006713023.2:c.1764C>G	XP_006713086.1:p.Asp588Glu
XM_006713024.2:c.1764C>G	XP_006713087.1:p.Asp588Glu
XM_011533479.1:c.1764C>G	XP_011531781.1:p.Asp588Glu
XM_011533480.1:c.615C>G	XP_011531782.1:p.Asp205Glu
XR_940391.1:n.1884C>G