Canonical Allele Identifier: CA2499216328
Gene: FANCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10072983dup , CM000665.2:g.10072983dup GRCh38
NC_000003.11:g.10114667dup , CM000665.1:g.10114667dup GRCh37
NC_000003.10:g.10089667dup NCBI36
NG_007311.1:g.51555dup , LRG_306:g.51555dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000681997.1:n.1689+2dup
ENST00000683263.1:n.1604+2dup
ENST00000675286.1:c.2605+2dup MANE Select ENSP00000502379.1:n.2605+2dup
ENST00000676013.1:c.2494+2dup ENSP00000501999.1:n.2494+2dup
ENST00000287647.7:c.2605+2dup ENSP00000287647.3:n.2605+2dup
ENST00000383807.5:c.2605+2dup ENSP00000373318.1:n.2605+2dup
ENST00000419585.5:c.2605+2dup ENSP00000398754.1:n.2605+2dup
ENST00000421731.5:c.1104+2dup
NM_001018115.1:c.2605+2dup , LRG_306t1:c.2605+2dup NP_001018125.1:n.2605+2dup
NM_033084.3:c.2605+2dup , LRG_306t2:c.2605+2dup NP_149075.2:n.2605+2dup
XM_005264946.2:c.2605+2dup XP_005265003.1:n.2605+2dup
XM_005264947.2:c.610+2dup XP_005265004.1:n.610+2dup
XM_006713021.2:c.2605+2dup XP_006713084.1:n.2605+2dup
XM_006713023.2:c.2605+2dup XP_006713086.1:n.2605+2dup
XM_006713024.2:c.2605+2dup XP_006713087.1:n.2605+2dup
XM_011533479.1:c.2605+2dup XP_011531781.1:n.2605+2dup
XM_011533480.1:c.1456+2dup XP_011531782.1:n.1456+2dup
XR_940391.1:n.2616+2dup
NM_001018115.2:c.2605+2dup NP_001018125.1:n.2605+2dup
NM_001319984.1:c.2605+2dup NP_001306913.1:n.2605+2dup
NM_033084.4:c.2605+2dup NP_149075.2:n.2605+2dup
NM_001018115.3:c.2605+2dup MANE Select NP_001018125.1:n.2605+2dup
NM_001319984.2:c.2605+2dup NP_001306913.1:n.2605+2dup
NM_001374253.1:c.2494+2dup NP_001361182.1:n.2494+2dup
NM_001374254.1:c.2605+2dup NP_001361183.1:n.2605+2dup
NM_033084.6:c.2605+2dup NP_149075.2:n.2605+2dup