Canonical Allele Identifier: CA351757201

Gene: FANCD2 FANCD2OS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10095234T>A , CM000665.2:g.10095234T>A	GRCh38
NC_000003.11:g.10136918T>A , CM000665.1:g.10136918T>A	GRCh37
NC_000003.10:g.10111918T>A	NCBI36
NG_007311.1:g.73806T>A , LRG_306:g.73806T>A
NG_042053.1:g.17998A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.3998T>A (FANCD2) MANE Select	NP_001018125.1:p.Leu1333Ter
ENST00000675286.1:c.3998T>A (FANCD2) MANE Select	ENSP00000502379.1:p.Leu1333Ter
NM_001018115.1:c.3998T>A , LRG_306t1:c.3998T>A (FANCD2)	NP_001018125.1:p.Leu1333Ter
NM_001018115.2:c.3998T>A (FANCD2)	NP_001018125.1:p.Leu1333Ter
NM_001319984.1:c.3998T>A (FANCD2)	NP_001306913.1:p.Leu1333Ter
NM_001319984.2:c.3998T>A (FANCD2)	NP_001306913.1:p.Leu1333Ter
NM_001374253.1:c.3887T>A (FANCD2)	NP_001361182.1:p.Leu1296Ter
NM_001374254.1:c.3959T>A (FANCD2)	NP_001361183.1:p.Leu1320Ter
NM_033084.3:c.3998T>A , LRG_306t2:c.3998T>A (FANCD2)	NP_149075.2:p.Leu1333Ter
NM_033084.4:c.3998T>A (FANCD2)	NP_149075.2:p.Leu1333Ter
NM_033084.6:c.3998T>A (FANCD2)	NP_149075.2:p.Leu1333Ter
NM_173472.1:c.*43+8964A>T (FANCD2OS)	NP_775743.1:n.*43+8964A>T
NM_173472.2:c.*43+8964A>T (FANCD2OS)	NP_775743.1:n.*43+8964A>T
ENST00000287647.7:c.3998T>A (FANCD2)	ENSP00000287647.3:p.Leu1333Ter
ENST00000383807.5:c.3998T>A (FANCD2)	ENSP00000373318.1:p.Leu1333Ter
ENST00000419585.5:c.3998T>A (FANCD2)	ENSP00000398754.1:p.Leu1333Ter
ENST00000421731.5:c.2403T>A (FANCD2)
ENST00000431315.5:n.71-344A>T (FANCD2OS)
ENST00000436517.5:n.91+23A>T (FANCD2OS)
ENST00000470028.1:n.71T>A (FANCD2)
ENST00000524279.1:c.*43+8964A>T (FANCD2OS)	ENSP00000429663.1:n.*43+8964A>T
ENST00000676013.1:c.3887T>A (FANCD2)	ENSP00000501999.1:p.Leu1296Ter
ENST00000681997.1:n.3082T>A (FANCD2)
ENST00000683263.1:n.2997T>A (FANCD2)
ENST00000683312.1:n.2498T>A (FANCD2)
ENST00000683933.1:n.756T>A (FANCD2)
XM_005264946.2:c.3998T>A (FANCD2)	XP_005265003.1:p.Leu1333Ter
XM_005264947.2:c.2003T>A (FANCD2)	XP_005265004.1:p.Leu668Ter
XM_006713021.2:c.3998T>A (FANCD2)	XP_006713084.1:p.Leu1333Ter
XM_006713023.2:c.3959T>A (FANCD2)	XP_006713086.1:p.Leu1320Ter
XM_006713024.2:c.3881T>A (FANCD2)	XP_006713087.1:p.Leu1294Ter
XM_011533480.1:c.2849T>A (FANCD2)	XP_011531782.1:p.Leu950Ter