Canonical Allele Identifier: CA70030350
Community Standard Title: NM_001018115.3(FANCD2):c.3467-2A>G
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10088447A>G , CM000665.2:g.10088447A>G GRCh38
NC_000003.11:g.10130131A>G , CM000665.1:g.10130131A>G GRCh37
NC_000003.10:g.10105131A>G NCBI36
NG_007311.1:g.67019A>G , LRG_306:g.67019A>G
NG_042053.1:g.24785T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001018115.3:c.3467-2A>G (FANCD2) MANE Select NP_001018125.1:n.3467-2A>G
ENST00000675286.1:c.3467-2A>G (FANCD2) MANE Select ENSP00000502379.1:n.3467-2A>G
NM_001018115.1:c.3467-2A>G , LRG_306t1:c.3467-2A>G (FANCD2) NP_001018125.1:n.3467-2A>G
NM_001018115.2:c.3467-2A>G (FANCD2) NP_001018125.1:n.3467-2A>G
NM_001319984.1:c.3467-2A>G (FANCD2) NP_001306913.1:n.3467-2A>G
NM_001319984.2:c.3467-2A>G (FANCD2) NP_001306913.1:n.3467-2A>G
NM_001374253.1:c.3356-2A>G (FANCD2) NP_001361182.1:n.3356-2A>G
NM_001374254.1:c.3467-2A>G (FANCD2) NP_001361183.1:n.3467-2A>G
NM_033084.3:c.3467-2A>G , LRG_306t2:c.3467-2A>G (FANCD2) NP_149075.2:n.3467-2A>G
NM_033084.4:c.3467-2A>G (FANCD2) NP_149075.2:n.3467-2A>G
NM_033084.6:c.3467-2A>G (FANCD2) NP_149075.2:n.3467-2A>G
NM_173472.1:c.*44-6916T>C (FANCD2OS) NP_775743.1:n.*44-6916T>C
NM_173472.2:c.*44-6916T>C (FANCD2OS) NP_775743.1:n.*44-6916T>C
ENST00000287647.7:c.3467-2A>G (FANCD2) ENSP00000287647.3:n.3467-2A>G
ENST00000383807.5:c.3467-2A>G (FANCD2) ENSP00000373318.1:n.3467-2A>G
ENST00000419585.5:c.3467-2A>G (FANCD2) ENSP00000398754.1:n.3467-2A>G
ENST00000421731.5:c.1966-2A>G (FANCD2)
ENST00000431315.5:n.96-1207T>C (FANCD2OS)
ENST00000436517.5:n.117-1207T>C (FANCD2OS)
ENST00000524279.1:c.*44-6916T>C (FANCD2OS) ENSP00000429663.1:n.*44-6916T>C
ENST00000676013.1:c.3356-2A>G (FANCD2) ENSP00000501999.1:n.3356-2A>G
ENST00000681997.1:n.2551-2A>G (FANCD2)
ENST00000683263.1:n.2466-2A>G (FANCD2)
ENST00000683933.1:n.264-2A>G (FANCD2)
XM_005264946.2:c.3467-2A>G (FANCD2) XP_005265003.1:n.3467-2A>G
XM_005264947.2:c.1472-2A>G (FANCD2) XP_005265004.1:n.1472-2A>G
XM_006713021.2:c.3467-2A>G (FANCD2) XP_006713084.1:n.3467-2A>G
XM_006713023.2:c.3467-2A>G (FANCD2) XP_006713086.1:n.3467-2A>G
XM_006713024.2:c.3350-2A>G (FANCD2) XP_006713087.1:n.3350-2A>G
XM_011533479.1:c.3467-2A>G (FANCD2) XP_011531781.1:n.3467-2A>G
XM_011533480.1:c.2318-2A>G (FANCD2) XP_011531782.1:n.2318-2A>G