Canonical Allele Identifier: CA2249106

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 456361
• ClinVar RCV Id: RCV000538452 ; RCV001150741 ; RCV001821498 ; RCV001528593 ; RCV003979943
• dbSNP Id: rs45510294
• ExAC: 3:10074529 A / C
• gnomAD v2: 3-10074529-A-C
• gnomAD v3: 3-10032845-A-C
• gnomAD v4: 3-10032845-A-C
• MyVariant Identifiers: chr3:g.10074529A>C (hg19) ; chr3:g.10032845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10032845A>C , CM000665.2:g.10032845A>C	GRCh38
NC_000003.11:g.10074529A>C , CM000665.1:g.10074529A>C	GRCh37
NC_000003.10:g.10049529A>C	NCBI36
NG_007311.1:g.11417A>C , LRG_306:g.11417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682647.1:c.*86A>C	ENSP00000506736.1:n.*86A>C
ENST00000675286.1:c.78A>C MANE Select	ENSP00000502379.1:p.Gln26His
ENST00000676013.1:c.78A>C	ENSP00000501999.1:p.Gln26His
ENST00000287647.7:c.78A>C	ENSP00000287647.3:p.Gln26His
ENST00000383807.5:c.78A>C	ENSP00000373318.1:p.Gln26His
ENST00000419585.5:c.78A>C	ENSP00000398754.1:p.Gln26His
ENST00000431693.1:c.78A>C	ENSP00000399354.1:p.Gln26His
ENST00000435522.5:c.*86A>C	ENSP00000402166.1:n.*86A>C
NM_001018115.1:c.78A>C , LRG_306t1:c.78A>C	NP_001018125.1:p.Gln26His
NM_033084.3:c.78A>C , LRG_306t2:c.78A>C	NP_149075.2:p.Gln26His
XM_005264946.2:c.78A>C	XP_005265003.1:p.Gln26His
XM_006713021.2:c.78A>C	XP_006713084.1:p.Gln26His
XM_006713023.2:c.78A>C	XP_006713086.1:p.Gln26His
XM_006713024.2:c.78A>C	XP_006713087.1:p.Gln26His
XM_011533479.1:c.78A>C	XP_011531781.1:p.Gln26His
XR_940391.1:n.198A>C
NM_001018115.2:c.78A>C	NP_001018125.1:p.Gln26His
NM_001319984.1:c.78A>C	NP_001306913.1:p.Gln26His
NM_033084.4:c.78A>C	NP_149075.2:p.Gln26His
NM_001018115.3:c.78A>C MANE Select	NP_001018125.1:p.Gln26His
NM_001319984.2:c.78A>C	NP_001306913.1:p.Gln26His
NM_001374253.1:c.78A>C	NP_001361182.1:p.Gln26His
NM_001374254.1:c.78A>C	NP_001361183.1:p.Gln26His
NM_001374255.1:c.78A>C	NP_001361184.1:p.Gln26His
NM_033084.6:c.78A>C	NP_149075.2:p.Gln26His