Canonical Allele Identifier: CA432407229

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10067229G>A , CM000665.2:g.10067229G>A	GRCh38
NC_000003.11:g.10108913G>A , CM000665.1:g.10108913G>A	GRCh37
NC_000003.10:g.10083913G>A	NCBI36
NG_007311.1:g.45801G>A , LRG_306:g.45801G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.2406G>A MANE Select	NP_001018125.1:p.Gln802=
ENST00000675286.1:c.2406G>A MANE Select	ENSP00000502379.1:p.Gln802=
NM_001018115.1:c.2406G>A , LRG_306t1:c.2406G>A	NP_001018125.1:p.Gln802=
NM_001018115.2:c.2406G>A	NP_001018125.1:p.Gln802=
NM_001319984.1:c.2406G>A	NP_001306913.1:p.Gln802=
NM_001319984.2:c.2406G>A	NP_001306913.1:p.Gln802=
NM_001374253.1:c.2295G>A	NP_001361182.1:p.Gln765=
NM_001374254.1:c.2406G>A	NP_001361183.1:p.Gln802=
NM_033084.3:c.2406G>A , LRG_306t2:c.2406G>A	NP_149075.2:p.Gln802=
NM_033084.4:c.2406G>A	NP_149075.2:p.Gln802=
NM_033084.6:c.2406G>A	NP_149075.2:p.Gln802=
ENST00000287647.7:c.2406G>A	ENSP00000287647.3:p.Gln802=
ENST00000383807.5:c.2406G>A	ENSP00000373318.1:p.Gln802=
ENST00000419585.5:c.2406G>A	ENSP00000398754.1:p.Gln802=
ENST00000421731.5:c.905G>A
ENST00000470757.5:n.439+1250G>A
ENST00000480909.1:n.421G>A
ENST00000676013.1:c.2295G>A	ENSP00000501999.1:p.Gln765=
ENST00000681997.1:n.1490G>A
ENST00000683263.1:n.1405G>A
XM_005264946.2:c.2406G>A	XP_005265003.1:p.Gln802=
XM_005264947.2:c.411G>A	XP_005265004.1:p.Gln137=
XM_006713021.2:c.2406G>A	XP_006713084.1:p.Gln802=
XM_006713023.2:c.2406G>A	XP_006713086.1:p.Gln802=
XM_006713024.2:c.2406G>A	XP_006713087.1:p.Gln802=
XM_011533479.1:c.2406G>A	XP_011531781.1:p.Gln802=
XM_011533480.1:c.1257G>A	XP_011531782.1:p.Gln419=
XR_940391.1:n.2505+1250G>A