Canonical Allele Identifier: CA159483

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10081113G>A , CM000665.2:g.10081113G>A	GRCh38
NC_000003.11:g.10122797G>A , CM000665.1:g.10122797G>A	GRCh37
NC_000003.10:g.10097797G>A	NCBI36
NG_007311.1:g.59685G>A , LRG_306:g.59685G>A
NG_042053.1:g.32119C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.2990G>A MANE Select	NP_001018125.1:p.Arg997Gln
ENST00000675286.1:c.2990G>A MANE Select	ENSP00000502379.1:p.Arg997Gln
NM_001018115.1:c.2990G>A , LRG_306t1:c.2990G>A	NP_001018125.1:p.Arg997Gln
NM_001018115.2:c.2990G>A	NP_001018125.1:p.Arg997Gln
NM_001319984.1:c.2990G>A	NP_001306913.1:p.Arg997Gln
NM_001319984.2:c.2990G>A	NP_001306913.1:p.Arg997Gln
NM_001374253.1:c.2879G>A	NP_001361182.1:p.Arg960Gln
NM_001374254.1:c.2990G>A	NP_001361183.1:p.Arg997Gln
NM_033084.3:c.2990G>A , LRG_306t2:c.2990G>A	NP_149075.2:p.Arg997Gln
NM_033084.4:c.2990G>A	NP_149075.2:p.Arg997Gln
NM_033084.6:c.2990G>A	NP_149075.2:p.Arg997Gln
ENST00000287647.7:c.2990G>A	ENSP00000287647.3:p.Arg997Gln
ENST00000383807.5:c.2990G>A	ENSP00000373318.1:p.Arg997Gln
ENST00000419585.5:c.2990G>A	ENSP00000398754.1:p.Arg997Gln
ENST00000421731.5:c.1489G>A
ENST00000676013.1:c.2879G>A	ENSP00000501999.1:p.Arg960Gln
ENST00000681997.1:n.2074G>A
ENST00000683263.1:n.1989G>A
ENST00000683933.1:n.29G>A
XM_005264946.2:c.2990G>A	XP_005265003.1:p.Arg997Gln
XM_005264947.2:c.995G>A	XP_005265004.1:p.Arg332Gln
XM_006713021.2:c.2990G>A	XP_006713084.1:p.Arg997Gln
XM_006713023.2:c.2990G>A	XP_006713086.1:p.Arg997Gln
XM_006713024.2:c.2873G>A	XP_006713087.1:p.Arg958Gln
XM_011533479.1:c.2990G>A	XP_011531781.1:p.Arg997Gln
XM_011533480.1:c.1841G>A	XP_011531782.1:p.Arg614Gln