Canonical Allele Identifier: CA2249737

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 257071
• ClinVar RCV Id: RCV000249464 ; RCV000380953
• dbSNP Id: rs200473919
• ExAC: 3:10094195 T / A
• gnomAD v2: 3-10094195-T-A
• gnomAD v3: 3-10052511-T-A
• gnomAD v4: 3-10052511-T-A
• MyVariant Identifiers: chr3:g.10094195T>A (hg19) ; chr3:g.10052511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10052511T>A , CM000665.2:g.10052511T>A	GRCh38
NC_000003.11:g.10094195T>A , CM000665.1:g.10094195T>A	GRCh37
NC_000003.10:g.10069195T>A	NCBI36
NG_007311.1:g.31083T>A , LRG_306:g.31083T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.740+14T>A
ENST00000682647.1:c.*1576+14T>A	ENSP00000506736.1:n.*1576+14T>A
ENST00000683263.1:n.655+14T>A
ENST00000675286.1:c.1656+14T>A MANE Select	ENSP00000502379.1:n.1656+14T>A
ENST00000676013.1:c.1545+3006T>A	ENSP00000501999.1:n.1545+3006T>A
ENST00000287647.7:c.1656+14T>A	ENSP00000287647.3:n.1656+14T>A
ENST00000383807.5:c.1656+14T>A	ENSP00000373318.1:n.1656+14T>A
ENST00000419585.5:c.1656+14T>A	ENSP00000398754.1:n.1656+14T>A
ENST00000421731.5:c.155+14T>A
NM_001018115.1:c.1656+14T>A , LRG_306t1:c.1656+14T>A	NP_001018125.1:n.1656+14T>A
NM_033084.3:c.1656+14T>A , LRG_306t2:c.1656+14T>A	NP_149075.2:n.1656+14T>A
XM_005264946.2:c.1656+14T>A	XP_005265003.1:n.1656+14T>A
XM_005264947.2:c.-266+14T>A	XP_005265004.1:n.-266+14T>A
XM_006713021.2:c.1656+14T>A	XP_006713084.1:n.1656+14T>A
XM_006713023.2:c.1656+14T>A	XP_006713086.1:n.1656+14T>A
XM_006713024.2:c.1656+14T>A	XP_006713087.1:n.1656+14T>A
XM_011533479.1:c.1656+14T>A	XP_011531781.1:n.1656+14T>A
XM_011533480.1:c.507+14T>A	XP_011531782.1:n.507+14T>A
XR_940391.1:n.1776+14T>A
NM_001018115.2:c.1656+14T>A	NP_001018125.1:n.1656+14T>A
NM_001319984.1:c.1656+14T>A	NP_001306913.1:n.1656+14T>A
NM_033084.4:c.1656+14T>A	NP_149075.2:n.1656+14T>A
NM_001018115.3:c.1656+14T>A MANE Select	NP_001018125.1:n.1656+14T>A
NM_001319984.2:c.1656+14T>A	NP_001306913.1:n.1656+14T>A
NM_001374253.1:c.1545+3006T>A	NP_001361182.1:n.1545+3006T>A
NM_001374254.1:c.1656+14T>A	NP_001361183.1:n.1656+14T>A
NM_033084.6:c.1656+14T>A	NP_149075.2:n.1656+14T>A