Canonical Allele Identifier: CA10614717
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Linked Data

ClinVar Variation Id: 342385
dbSNP Id: rs17032386
gnomAD v2: 3-10140769-A-G
gnomAD v3: 3-10099085-A-G
gnomAD v4: 3-10099085-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10099085A>G , CM000665.2:g.10099085A>G GRCh38
NC_000003.11:g.10140769A>G , CM000665.1:g.10140769A>G GRCh37
NC_000003.10:g.10115769A>G NCBI36
NG_007311.1:g.77657A>G , LRG_306:g.77657A>G
NG_042053.1:g.14147T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000675286.1:c.4281+270A>G (FANCD2) MANE Select ENSP00000502379.1:n.4281+270A>G
ENST00000676013.1:c.4170+270A>G (FANCD2) ENSP00000501999.1:n.4170+270A>G
ENST00000287647.7:c.*135A>G (FANCD2) ENSP00000287647.3:n.*135A>G
ENST00000383807.5:c.4281+270A>G (FANCD2) ENSP00000373318.1:n.4281+270A>G
ENST00000419585.5:c.4281+270A>G (FANCD2) ENSP00000398754.1:n.4281+270A>G
ENST00000421731.5:c.2686+270A>G (FANCD2)
ENST00000431315.5:n.71-4195T>C (FANCD2OS)
ENST00000470028.1:n.354+270A>G (FANCD2)
ENST00000524279.1:c.*43+5113T>C (FANCD2OS) ENSP00000429663.1:n.*43+5113T>C
NM_001018115.1:c.4281+270A>G , LRG_306t1:c.4281+270A>G (FANCD2) NP_001018125.1:n.4281+270A>G
NM_033084.3:c.*135A>G , LRG_306t2:c.*135A>G (FANCD2) NP_149075.2:n.*135A>G
NM_173472.1:c.*43+5113T>C (FANCD2OS) NP_775743.1:n.*43+5113T>C
XM_005264946.2:c.4281+270A>G (FANCD2) XP_005265003.1:n.4281+270A>G
XM_005264947.2:c.*135A>G (FANCD2) XP_005265004.1:n.*135A>G
XM_006713021.2:c.*135A>G (FANCD2) XP_006713084.1:n.*135A>G
XM_006713023.2:c.*135A>G (FANCD2) XP_006713086.1:n.*135A>G
XM_006713024.2:c.*135A>G (FANCD2) XP_006713087.1:n.*135A>G
XM_011533480.1:c.*135A>G (FANCD2) XP_011531782.1:n.*135A>G
NM_001018115.2:c.4281+270A>G (FANCD2) NP_001018125.1:n.4281+270A>G
NM_001319984.1:c.4281+270A>G (FANCD2) NP_001306913.1:n.4281+270A>G
NM_033084.4:c.*135A>G (FANCD2) NP_149075.2:n.*135A>G
NM_001018115.3:c.4281+270A>G (FANCD2) MANE Select NP_001018125.1:n.4281+270A>G
NM_001319984.2:c.4281+270A>G (FANCD2) NP_001306913.1:n.4281+270A>G
NM_001374253.1:c.4170+270A>G (FANCD2) NP_001361182.1:n.4170+270A>G
NM_001374254.1:c.*135A>G (FANCD2) NP_001361183.1:n.*135A>G
NM_033084.6:c.*135A>G (FANCD2) NP_149075.2:n.*135A>G
NM_173472.2:c.*43+5113T>C (FANCD2OS) NP_775743.1:n.*43+5113T>C