Canonical Allele Identifier: CA159516
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Linked Data

ClinVar Variation Id: 134329
dbSNP Id: rs78896323
gnomAD v2: 3-10140614-C-A
gnomAD v3: 3-10098930-C-A
gnomAD v4: 3-10098930-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10098930C>A , CM000665.2:g.10098930C>A GRCh38
NC_000003.11:g.10140614C>A , CM000665.1:g.10140614C>A GRCh37
NC_000003.10:g.10115614C>A NCBI36
NG_007311.1:g.77502C>A , LRG_306:g.77502C>A
NG_042053.1:g.14302G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681997.1:n.3480C>A (FANCD2)
ENST00000683263.1:n.3395C>A (FANCD2)
ENST00000683312.1:n.3947C>A (FANCD2)
ENST00000675286.1:c.4281+115C>A (FANCD2) MANE Select ENSP00000502379.1:n.4281+115C>A
ENST00000676013.1:c.4170+115C>A (FANCD2) ENSP00000501999.1:n.4170+115C>A
ENST00000287647.7:c.4396C>A (FANCD2) ENSP00000287647.3:p.Pro1466Thr
ENST00000383807.5:c.4281+115C>A (FANCD2) ENSP00000373318.1:n.4281+115C>A
ENST00000419585.5:c.4281+115C>A (FANCD2) ENSP00000398754.1:n.4281+115C>A
ENST00000421731.5:c.2686+115C>A (FANCD2)
ENST00000431315.5:n.71-4040G>T (FANCD2OS)
ENST00000470028.1:n.354+115C>A (FANCD2)
ENST00000524279.1:c.*43+5268G>T (FANCD2OS) ENSP00000429663.1:n.*43+5268G>T
NM_001018115.1:c.4281+115C>A , LRG_306t1:c.4281+115C>A (FANCD2) NP_001018125.1:n.4281+115C>A
NM_033084.3:c.4396C>A , LRG_306t2:c.4396C>A (FANCD2) NP_149075.2:p.Pro1466Thr
NM_173472.1:c.*43+5268G>T (FANCD2OS) NP_775743.1:n.*43+5268G>T
XM_005264946.2:c.4281+115C>A (FANCD2) XP_005265003.1:n.4281+115C>A
XM_005264947.2:c.2401C>A (FANCD2) XP_005265004.1:p.Pro801Thr
XM_006713021.2:c.4396C>A (FANCD2) XP_006713084.1:p.Pro1466Thr
XM_006713023.2:c.4357C>A (FANCD2) XP_006713086.1:p.Pro1453Thr
XM_006713024.2:c.4279C>A (FANCD2) XP_006713087.1:p.Pro1427Thr
XM_011533480.1:c.3247C>A (FANCD2) XP_011531782.1:p.Pro1083Thr
NM_001018115.2:c.4281+115C>A (FANCD2) NP_001018125.1:n.4281+115C>A
NM_001319984.1:c.4281+115C>A (FANCD2) NP_001306913.1:n.4281+115C>A
NM_033084.4:c.4396C>A (FANCD2) NP_149075.2:p.Pro1466Thr
NM_001018115.3:c.4281+115C>A (FANCD2) MANE Select NP_001018125.1:n.4281+115C>A
NM_001319984.2:c.4281+115C>A (FANCD2) NP_001306913.1:n.4281+115C>A
NM_001374253.1:c.4170+115C>A (FANCD2) NP_001361182.1:n.4170+115C>A
NM_001374254.1:c.4357C>A (FANCD2) NP_001361183.1:p.Pro1453Thr
NM_033084.6:c.4396C>A (FANCD2) NP_149075.2:p.Pro1466Thr
NM_173472.2:c.*43+5268G>T (FANCD2OS) NP_775743.1:n.*43+5268G>T