Canonical Allele Identifier: CA159423
Gene: FANCD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 134310
dbSNP Id: rs35625434
gnomAD v2: 3-10084828-G-A
gnomAD v3: 3-10043144-G-A
gnomAD v4: 3-10043144-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10043144G>A , CM000665.2:g.10043144G>A GRCh38
NC_000003.11:g.10084828G>A , CM000665.1:g.10084828G>A GRCh37
NC_000003.10:g.10059828G>A NCBI36
NG_007311.1:g.21716G>A , LRG_306:g.21716G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682647.1:c.*903G>A ENSP00000506736.1:n.*903G>A
ENST00000675286.1:c.983G>A MANE Select ENSP00000502379.1:p.Arg328Gln
ENST00000676013.1:c.983G>A ENSP00000501999.1:p.Arg328Gln
ENST00000287647.7:c.983G>A ENSP00000287647.3:p.Arg328Gln
ENST00000383807.5:c.983G>A ENSP00000373318.1:p.Arg328Gln
ENST00000419585.5:c.983G>A ENSP00000398754.1:p.Arg328Gln
NM_001018115.1:c.983G>A , LRG_306t1:c.983G>A NP_001018125.1:p.Arg328Gln
NM_033084.3:c.983G>A , LRG_306t2:c.983G>A NP_149075.2:p.Arg328Gln
XM_005264946.2:c.983G>A XP_005265003.1:p.Arg328Gln
XM_006713021.2:c.983G>A XP_006713084.1:p.Arg328Gln
XM_006713023.2:c.983G>A XP_006713086.1:p.Arg328Gln
XM_006713024.2:c.983G>A XP_006713087.1:p.Arg328Gln
XM_011533479.1:c.983G>A XP_011531781.1:p.Arg328Gln
XR_940391.1:n.1103G>A
NM_001018115.2:c.983G>A NP_001018125.1:p.Arg328Gln
NM_001319984.1:c.983G>A NP_001306913.1:p.Arg328Gln
NM_033084.4:c.983G>A NP_149075.2:p.Arg328Gln
NM_001018115.3:c.983G>A MANE Select NP_001018125.1:p.Arg328Gln
NM_001319984.2:c.983G>A NP_001306913.1:p.Arg328Gln
NM_001374253.1:c.983G>A NP_001361182.1:p.Arg328Gln
NM_001374254.1:c.983G>A NP_001361183.1:p.Arg328Gln
NM_033084.6:c.983G>A NP_149075.2:p.Arg328Gln