Canonical Allele Identifier: CA2250364

Gene: FANCD2 FANCD2OS

Linked Data

• ClinVar Variation Id: 861648
• ClinVar RCV Id: RCV001068215
• dbSNP Id: rs200800132
• ExAC: 3:10128825 G / A
• gnomAD v2: 3-10128825-G-A
• gnomAD v3: 3-10087141-G-A
• gnomAD v4: 3-10087141-G-A
• MyVariant Identifiers: chr3:g.10128825G>A (hg19) ; chr3:g.10087141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10087141G>A , CM000665.2:g.10087141G>A	GRCh38
NC_000003.11:g.10128825G>A , CM000665.1:g.10128825G>A	GRCh37
NC_000003.10:g.10103825G>A	NCBI36
NG_007311.1:g.65713G>A , LRG_306:g.65713G>A
NG_042053.1:g.26091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.2427G>A (FANCD2)
ENST00000683263.1:n.2342G>A (FANCD2)
ENST00000683933.1:n.264-1308G>A (FANCD2)
ENST00000675286.1:c.3343G>A (FANCD2) MANE Select	ENSP00000502379.1:p.Val1115Ile
ENST00000676013.1:c.3232G>A (FANCD2)	ENSP00000501999.1:p.Val1078Ile
ENST00000287647.7:c.3343G>A (FANCD2)	ENSP00000287647.3:p.Val1115Ile
ENST00000383807.5:c.3343G>A (FANCD2)	ENSP00000373318.1:p.Val1115Ile
ENST00000419585.5:c.3343G>A (FANCD2)	ENSP00000398754.1:p.Val1115Ile
ENST00000421731.5:c.1842G>A (FANCD2)
ENST00000431315.5:n.195C>T (FANCD2OS)
ENST00000436517.5:n.216C>T (FANCD2OS)
ENST00000524279.1:c.*44-5610C>T (FANCD2OS)	ENSP00000429663.1:n.*44-5610C>T
NM_001018115.1:c.3343G>A , LRG_306t1:c.3343G>A (FANCD2)	NP_001018125.1:p.Val1115Ile
NM_033084.3:c.3343G>A , LRG_306t2:c.3343G>A (FANCD2)	NP_149075.2:p.Val1115Ile
NM_173472.1:c.*44-5610C>T (FANCD2OS)	NP_775743.1:n.*44-5610C>T
XM_005264946.2:c.3343G>A (FANCD2)	XP_005265003.1:p.Val1115Ile
XM_005264947.2:c.1348G>A (FANCD2)	XP_005265004.1:p.Val450Ile
XM_006713021.2:c.3343G>A (FANCD2)	XP_006713084.1:p.Val1115Ile
XM_006713023.2:c.3343G>A (FANCD2)	XP_006713086.1:p.Val1115Ile
XM_006713024.2:c.3226G>A (FANCD2)	XP_006713087.1:p.Val1076Ile
XM_011533479.1:c.3343G>A (FANCD2)	XP_011531781.1:p.Val1115Ile
XM_011533480.1:c.2194G>A (FANCD2)	XP_011531782.1:p.Val732Ile
NM_001018115.2:c.3343G>A (FANCD2)	NP_001018125.1:p.Val1115Ile
NM_001319984.1:c.3343G>A (FANCD2)	NP_001306913.1:p.Val1115Ile
NM_033084.4:c.3343G>A (FANCD2)	NP_149075.2:p.Val1115Ile
NM_001018115.3:c.3343G>A (FANCD2) MANE Select	NP_001018125.1:p.Val1115Ile
NM_001319984.2:c.3343G>A (FANCD2)	NP_001306913.1:p.Val1115Ile
NM_001374253.1:c.3232G>A (FANCD2)	NP_001361182.1:p.Val1078Ile
NM_001374254.1:c.3343G>A (FANCD2)	NP_001361183.1:p.Val1115Ile
NM_033084.6:c.3343G>A (FANCD2)	NP_149075.2:p.Val1115Ile
NM_173472.2:c.*44-5610C>T (FANCD2OS)	NP_775743.1:n.*44-5610C>T