Canonical Allele Identifier: CA351755873
Community Standard Title: NM_001018115.3(FANCD2):c.3849+1G>A
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10092253G>A , CM000665.2:g.10092253G>A GRCh38
NC_000003.11:g.10133937G>A , CM000665.1:g.10133937G>A GRCh37
NC_000003.10:g.10108937G>A NCBI36
NG_007311.1:g.70825G>A , LRG_306:g.70825G>A
NG_042053.1:g.20979C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001018115.3:c.3849+1G>A (FANCD2) MANE Select NP_001018125.1:n.3849+1G>A
ENST00000675286.1:c.3849+1G>A (FANCD2) MANE Select ENSP00000502379.1:n.3849+1G>A
NM_001018115.1:c.3849+1G>A , LRG_306t1:c.3849+1G>A (FANCD2) NP_001018125.1:n.3849+1G>A
NM_001018115.2:c.3849+1G>A (FANCD2) NP_001018125.1:n.3849+1G>A
NM_001319984.1:c.3849+1G>A (FANCD2) NP_001306913.1:n.3849+1G>A
NM_001319984.2:c.3849+1G>A (FANCD2) NP_001306913.1:n.3849+1G>A
NM_001374253.1:c.3738+1G>A (FANCD2) NP_001361182.1:n.3738+1G>A
NM_001374254.1:c.3849+1G>A (FANCD2) NP_001361183.1:n.3849+1G>A
NM_033084.3:c.3849+1G>A , LRG_306t2:c.3849+1G>A (FANCD2) NP_149075.2:n.3849+1G>A
NM_033084.4:c.3849+1G>A (FANCD2) NP_149075.2:n.3849+1G>A
NM_033084.6:c.3849+1G>A (FANCD2) NP_149075.2:n.3849+1G>A
NM_173472.1:c.*44-10722C>T (FANCD2OS) NP_775743.1:n.*44-10722C>T
NM_173472.2:c.*44-10722C>T (FANCD2OS) NP_775743.1:n.*44-10722C>T
ENST00000287647.7:c.3849+1G>A (FANCD2) ENSP00000287647.3:n.3849+1G>A
ENST00000383807.5:c.3849+1G>A (FANCD2) ENSP00000373318.1:n.3849+1G>A
ENST00000419585.5:c.3849+1G>A (FANCD2) ENSP00000398754.1:n.3849+1G>A
ENST00000421731.5:c.2254+1G>A (FANCD2)
ENST00000431315.5:n.95+2613C>T (FANCD2OS)
ENST00000436517.5:n.116+2613C>T (FANCD2OS)
ENST00000524279.1:c.*44-10722C>T (FANCD2OS) ENSP00000429663.1:n.*44-10722C>T
ENST00000676013.1:c.3738+1G>A (FANCD2) ENSP00000501999.1:n.3738+1G>A
ENST00000681997.1:n.2933+1G>A (FANCD2)
ENST00000683263.1:n.2848+1G>A (FANCD2)
ENST00000683933.1:n.646+1G>A (FANCD2)
XM_005264946.2:c.3849+1G>A (FANCD2) XP_005265003.1:n.3849+1G>A
XM_005264947.2:c.1854+1G>A (FANCD2) XP_005265004.1:n.1854+1G>A
XM_006713021.2:c.3849+1G>A (FANCD2) XP_006713084.1:n.3849+1G>A
XM_006713023.2:c.3849+1G>A (FANCD2) XP_006713086.1:n.3849+1G>A
XM_006713024.2:c.3732+1G>A (FANCD2) XP_006713087.1:n.3732+1G>A
XM_011533480.1:c.2700+1G>A (FANCD2) XP_011531782.1:n.2700+1G>A