Canonical Allele Identifier: CA70039724

Gene: FANCD2 FANCD2OS

Linked Data

• dbSNP Id: rs142378663
• gnomAD v3: 3-10098853-G-C
• gnomAD v4: 3-10098853-G-C
• MyVariant Identifiers: chr3:g.10140537G>C (hg19) ; chr3:g.10098853G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10098853G>C , CM000665.2:g.10098853G>C	GRCh38
NC_000003.11:g.10140537G>C , CM000665.1:g.10140537G>C	GRCh37
NC_000003.10:g.10115537G>C	NCBI36
NG_007311.1:g.77425G>C , LRG_306:g.77425G>C
NG_042053.1:g.14379C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.3403G>C (FANCD2)
ENST00000683263.1:n.3318G>C (FANCD2)
ENST00000683312.1:n.3870G>C (FANCD2)
ENST00000675286.1:c.4281+38G>C (FANCD2) MANE Select	ENSP00000502379.1:n.4281+38G>C
ENST00000676013.1:c.4170+38G>C (FANCD2)	ENSP00000501999.1:n.4170+38G>C
ENST00000287647.7:c.4319G>C (FANCD2)	ENSP00000287647.3:p.Gly1440Ala
ENST00000383807.5:c.4281+38G>C (FANCD2)	ENSP00000373318.1:n.4281+38G>C
ENST00000419585.5:c.4281+38G>C (FANCD2)	ENSP00000398754.1:n.4281+38G>C
ENST00000421731.5:c.2686+38G>C (FANCD2)
ENST00000431315.5:n.71-3963C>G (FANCD2OS)
ENST00000470028.1:n.354+38G>C (FANCD2)
ENST00000524279.1:c.*43+5345C>G (FANCD2OS)	ENSP00000429663.1:n.*43+5345C>G
NM_001018115.1:c.4281+38G>C , LRG_306t1:c.4281+38G>C (FANCD2)	NP_001018125.1:n.4281+38G>C
NM_033084.3:c.4319G>C , LRG_306t2:c.4319G>C (FANCD2)	NP_149075.2:p.Gly1440Ala
NM_173472.1:c.*43+5345C>G (FANCD2OS)	NP_775743.1:n.*43+5345C>G
XM_005264946.2:c.4281+38G>C (FANCD2)	XP_005265003.1:n.4281+38G>C
XM_005264947.2:c.2324G>C (FANCD2)	XP_005265004.1:p.Gly775Ala
XM_006713021.2:c.4319G>C (FANCD2)	XP_006713084.1:p.Gly1440Ala
XM_006713023.2:c.4280G>C (FANCD2)	XP_006713086.1:p.Gly1427Ala
XM_006713024.2:c.4202G>C (FANCD2)	XP_006713087.1:p.Gly1401Ala
XM_011533480.1:c.3170G>C (FANCD2)	XP_011531782.1:p.Gly1057Ala
NM_001018115.2:c.4281+38G>C (FANCD2)	NP_001018125.1:n.4281+38G>C
NM_001319984.1:c.4281+38G>C (FANCD2)	NP_001306913.1:n.4281+38G>C
NM_033084.4:c.4319G>C (FANCD2)	NP_149075.2:p.Gly1440Ala
NM_001018115.3:c.4281+38G>C (FANCD2) MANE Select	NP_001018125.1:n.4281+38G>C
NM_001319984.2:c.4281+38G>C (FANCD2)	NP_001306913.1:n.4281+38G>C
NM_001374253.1:c.4170+38G>C (FANCD2)	NP_001361182.1:n.4170+38G>C
NM_001374254.1:c.4280G>C (FANCD2)	NP_001361183.1:p.Gly1427Ala
NM_033084.6:c.4319G>C (FANCD2)	NP_149075.2:p.Gly1440Ala
NM_173472.2:c.*43+5345C>G (FANCD2OS)	NP_775743.1:n.*43+5345C>G