Canonical Allele Identifier: CA10616662

Gene: FANCD2 FANCD2OS

Linked Data

• ClinVar Variation Id: 342377
• ClinVar RCV Id: RCV000300217
• dbSNP Id: rs886057692
• MyVariant Identifiers: chr3:g.10133875A>G (hg19) ; chr3:g.10092191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10092191A>G , CM000665.2:g.10092191A>G	GRCh38
NC_000003.11:g.10133875A>G , CM000665.1:g.10133875A>G	GRCh37
NC_000003.10:g.10108875A>G	NCBI36
NG_007311.1:g.70763A>G , LRG_306:g.70763A>G
NG_042053.1:g.21041T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681997.1:n.2872A>G (FANCD2)
ENST00000683263.1:n.2787A>G (FANCD2)
ENST00000683933.1:n.585A>G (FANCD2)
ENST00000675286.1:c.3788A>G (FANCD2) MANE Select	ENSP00000502379.1:p.Glu1263Gly
ENST00000676013.1:c.3677A>G (FANCD2)	ENSP00000501999.1:p.Glu1226Gly
ENST00000287647.7:c.3788A>G (FANCD2)	ENSP00000287647.3:p.Glu1263Gly
ENST00000383807.5:c.3788A>G (FANCD2)	ENSP00000373318.1:p.Glu1263Gly
ENST00000419585.5:c.3788A>G (FANCD2)	ENSP00000398754.1:p.Glu1263Gly
ENST00000421731.5:c.2193A>G (FANCD2)
ENST00000431315.5:n.95+2675T>C (FANCD2OS)
ENST00000436517.5:n.116+2675T>C (FANCD2OS)
ENST00000524279.1:c.*44-10660T>C (FANCD2OS)	ENSP00000429663.1:n.*44-10660T>C
NM_001018115.1:c.3788A>G , LRG_306t1:c.3788A>G (FANCD2)	NP_001018125.1:p.Glu1263Gly
NM_033084.3:c.3788A>G , LRG_306t2:c.3788A>G (FANCD2)	NP_149075.2:p.Glu1263Gly
NM_173472.1:c.*44-10660T>C (FANCD2OS)	NP_775743.1:n.*44-10660T>C
XM_005264946.2:c.3788A>G (FANCD2)	XP_005265003.1:p.Glu1263Gly
XM_005264947.2:c.1793A>G (FANCD2)	XP_005265004.1:p.Glu598Gly
XM_006713021.2:c.3788A>G (FANCD2)	XP_006713084.1:p.Glu1263Gly
XM_006713023.2:c.3788A>G (FANCD2)	XP_006713086.1:p.Glu1263Gly
XM_006713024.2:c.3671A>G (FANCD2)	XP_006713087.1:p.Glu1224Gly
XM_011533480.1:c.2639A>G (FANCD2)	XP_011531782.1:p.Glu880Gly
NM_001018115.2:c.3788A>G (FANCD2)	NP_001018125.1:p.Glu1263Gly
NM_001319984.1:c.3788A>G (FANCD2)	NP_001306913.1:p.Glu1263Gly
NM_033084.4:c.3788A>G (FANCD2)	NP_149075.2:p.Glu1263Gly
NM_001018115.3:c.3788A>G (FANCD2) MANE Select	NP_001018125.1:p.Glu1263Gly
NM_001319984.2:c.3788A>G (FANCD2)	NP_001306913.1:p.Glu1263Gly
NM_001374253.1:c.3677A>G (FANCD2)	NP_001361182.1:p.Glu1226Gly
NM_001374254.1:c.3788A>G (FANCD2)	NP_001361183.1:p.Glu1263Gly
NM_033084.6:c.3788A>G (FANCD2)	NP_149075.2:p.Glu1263Gly
NM_173472.2:c.*44-10660T>C (FANCD2OS)	NP_775743.1:n.*44-10660T>C