Canonical Allele Identifier: CA351759034

Gene: FANCD2 FANCD2OS

Linked Data

• gnomAD v4: 3-10098843-G-T
• COSMIC: COSM6162375
• MyVariant Identifiers: chr3:g.10140527G>T (hg19) ; chr3:g.10098843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10098843G>T , CM000665.2:g.10098843G>T	GRCh38
NC_000003.11:g.10140527G>T , CM000665.1:g.10140527G>T	GRCh37
NC_000003.10:g.10115527G>T	NCBI36
NG_007311.1:g.77415G>T , LRG_306:g.77415G>T
NG_042053.1:g.14389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.3393G>T (FANCD2)
ENST00000683263.1:n.3308G>T (FANCD2)
ENST00000683312.1:n.3860G>T (FANCD2)
ENST00000675286.1:c.4281+28G>T (FANCD2) MANE Select	ENSP00000502379.1:n.4281+28G>T
ENST00000676013.1:c.4170+28G>T (FANCD2)	ENSP00000501999.1:n.4170+28G>T
ENST00000287647.7:c.4309G>T (FANCD2)	ENSP00000287647.3:p.Gly1437Cys
ENST00000383807.5:c.4281+28G>T (FANCD2)	ENSP00000373318.1:n.4281+28G>T
ENST00000419585.5:c.4281+28G>T (FANCD2)	ENSP00000398754.1:n.4281+28G>T
ENST00000421731.5:c.2686+28G>T (FANCD2)
ENST00000431315.5:n.71-3953C>A (FANCD2OS)
ENST00000470028.1:n.354+28G>T (FANCD2)
ENST00000524279.1:c.*43+5355C>A (FANCD2OS)	ENSP00000429663.1:n.*43+5355C>A
NM_001018115.1:c.4281+28G>T , LRG_306t1:c.4281+28G>T (FANCD2)	NP_001018125.1:n.4281+28G>T
NM_033084.3:c.4309G>T , LRG_306t2:c.4309G>T (FANCD2)	NP_149075.2:p.Gly1437Cys
NM_173472.1:c.*43+5355C>A (FANCD2OS)	NP_775743.1:n.*43+5355C>A
XM_005264946.2:c.4281+28G>T (FANCD2)	XP_005265003.1:n.4281+28G>T
XM_005264947.2:c.2314G>T (FANCD2)	XP_005265004.1:p.Gly772Cys
XM_006713021.2:c.4309G>T (FANCD2)	XP_006713084.1:p.Gly1437Cys
XM_006713023.2:c.4270G>T (FANCD2)	XP_006713086.1:p.Gly1424Cys
XM_006713024.2:c.4192G>T (FANCD2)	XP_006713087.1:p.Gly1398Cys
XM_011533480.1:c.3160G>T (FANCD2)	XP_011531782.1:p.Gly1054Cys
NM_001018115.2:c.4281+28G>T (FANCD2)	NP_001018125.1:n.4281+28G>T
NM_001319984.1:c.4281+28G>T (FANCD2)	NP_001306913.1:n.4281+28G>T
NM_033084.4:c.4309G>T (FANCD2)	NP_149075.2:p.Gly1437Cys
NM_001018115.3:c.4281+28G>T (FANCD2) MANE Select	NP_001018125.1:n.4281+28G>T
NM_001319984.2:c.4281+28G>T (FANCD2)	NP_001306913.1:n.4281+28G>T
NM_001374253.1:c.4170+28G>T (FANCD2)	NP_001361182.1:n.4170+28G>T
NM_001374254.1:c.4270G>T (FANCD2)	NP_001361183.1:p.Gly1424Cys
NM_033084.6:c.4309G>T (FANCD2)	NP_149075.2:p.Gly1437Cys
NM_173472.2:c.*43+5355C>A (FANCD2OS)	NP_775743.1:n.*43+5355C>A