Canonical Allele Identifier: CA541213459

Gene: FANCD2 FANCD2OS

Linked Data

• dbSNP Id: rs1468507842
• gnomAD v2: 3-10140681-C-T
• gnomAD v4: 3-10098997-C-T
• MyVariant Identifiers: chr3:g.10140681C>T (hg19) ; chr3:g.10098997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10098997C>T , CM000665.2:g.10098997C>T	GRCh38
NC_000003.11:g.10140681C>T , CM000665.1:g.10140681C>T	GRCh37
NC_000003.10:g.10115681C>T	NCBI36
NG_007311.1:g.77569C>T , LRG_306:g.77569C>T
NG_042053.1:g.14235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.3547C>T (FANCD2)
ENST00000683263.1:n.3462C>T (FANCD2)
ENST00000675286.1:c.4281+182C>T (FANCD2) MANE Select	ENSP00000502379.1:n.4281+182C>T
ENST00000676013.1:c.4170+182C>T (FANCD2)	ENSP00000501999.1:n.4170+182C>T
ENST00000287647.7:c.*47C>T (FANCD2)	ENSP00000287647.3:n.*47C>T
ENST00000383807.5:c.4281+182C>T (FANCD2)	ENSP00000373318.1:n.4281+182C>T
ENST00000419585.5:c.4281+182C>T (FANCD2)	ENSP00000398754.1:n.4281+182C>T
ENST00000421731.5:c.2686+182C>T (FANCD2)
ENST00000431315.5:n.71-4107G>A (FANCD2OS)
ENST00000470028.1:n.354+182C>T (FANCD2)
ENST00000524279.1:c.*43+5201G>A (FANCD2OS)	ENSP00000429663.1:n.*43+5201G>A
NM_001018115.1:c.4281+182C>T , LRG_306t1:c.4281+182C>T (FANCD2)	NP_001018125.1:n.4281+182C>T
NM_033084.3:c.*47C>T , LRG_306t2:c.*47C>T (FANCD2)	NP_149075.2:n.*47C>T
NM_173472.1:c.*43+5201G>A (FANCD2OS)	NP_775743.1:n.*43+5201G>A
XM_005264946.2:c.4281+182C>T (FANCD2)	XP_005265003.1:n.4281+182C>T
XM_005264947.2:c.*47C>T (FANCD2)	XP_005265004.1:n.*47C>T
XM_006713021.2:c.*47C>T (FANCD2)	XP_006713084.1:n.*47C>T
XM_006713023.2:c.*47C>T (FANCD2)	XP_006713086.1:n.*47C>T
XM_006713024.2:c.*47C>T (FANCD2)	XP_006713087.1:n.*47C>T
XM_011533480.1:c.*47C>T (FANCD2)	XP_011531782.1:n.*47C>T
NM_001018115.2:c.4281+182C>T (FANCD2)	NP_001018125.1:n.4281+182C>T
NM_001319984.1:c.4281+182C>T (FANCD2)	NP_001306913.1:n.4281+182C>T
NM_033084.4:c.*47C>T (FANCD2)	NP_149075.2:n.*47C>T
NM_001018115.3:c.4281+182C>T (FANCD2) MANE Select	NP_001018125.1:n.4281+182C>T
NM_001319984.2:c.4281+182C>T (FANCD2)	NP_001306913.1:n.4281+182C>T
NM_001374253.1:c.4170+182C>T (FANCD2)	NP_001361182.1:n.4170+182C>T
NM_001374254.1:c.*47C>T (FANCD2)	NP_001361183.1:n.*47C>T
NM_033084.6:c.*47C>T (FANCD2)	NP_149075.2:n.*47C>T
NM_173472.2:c.*43+5201G>A (FANCD2OS)	NP_775743.1:n.*43+5201G>A