Canonical Allele Identifier: CA2249711

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 342271
• ClinVar RCV Id: RCV000320347 ; RCV002057813
• dbSNP Id: rs530202330
• ExAC: 3:10094063 T / C
• gnomAD v2: 3-10094063-T-C
• gnomAD v3: 3-10052379-T-C
• gnomAD v4: 3-10052379-T-C
• MyVariant Identifiers: chr3:g.10094063T>C (hg19) ; chr3:g.10052379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10052379T>C , CM000665.2:g.10052379T>C	GRCh38
NC_000003.11:g.10094063T>C , CM000665.1:g.10094063T>C	GRCh37
NC_000003.10:g.10069063T>C	NCBI36
NG_007311.1:g.30951T>C , LRG_306:g.30951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.630-8T>C
ENST00000682647.1:c.*1466-8T>C	ENSP00000506736.1:n.*1466-8T>C
ENST00000683263.1:n.545-8T>C
ENST00000675286.1:c.1546-8T>C MANE Select	ENSP00000502379.1:n.1546-8T>C
ENST00000676013.1:c.1545+2874T>C	ENSP00000501999.1:n.1545+2874T>C
ENST00000287647.7:c.1546-8T>C	ENSP00000287647.3:n.1546-8T>C
ENST00000383807.5:c.1546-8T>C	ENSP00000373318.1:n.1546-8T>C
ENST00000419585.5:c.1546-8T>C	ENSP00000398754.1:n.1546-8T>C
ENST00000421731.5:c.45-8T>C
NM_001018115.1:c.1546-8T>C , LRG_306t1:c.1546-8T>C	NP_001018125.1:n.1546-8T>C
NM_033084.3:c.1546-8T>C , LRG_306t2:c.1546-8T>C	NP_149075.2:n.1546-8T>C
XM_005264946.2:c.1546-8T>C	XP_005265003.1:n.1546-8T>C
XM_005264947.2:c.-376-8T>C	XP_005265004.1:n.-376-8T>C
XM_006713021.2:c.1546-8T>C	XP_006713084.1:n.1546-8T>C
XM_006713023.2:c.1546-8T>C	XP_006713086.1:n.1546-8T>C
XM_006713024.2:c.1546-8T>C	XP_006713087.1:n.1546-8T>C
XM_011533479.1:c.1546-8T>C	XP_011531781.1:n.1546-8T>C
XM_011533480.1:c.397-8T>C	XP_011531782.1:n.397-8T>C
XR_940391.1:n.1666-8T>C
NM_001018115.2:c.1546-8T>C	NP_001018125.1:n.1546-8T>C
NM_001319984.1:c.1546-8T>C	NP_001306913.1:n.1546-8T>C
NM_033084.4:c.1546-8T>C	NP_149075.2:n.1546-8T>C
NM_001018115.3:c.1546-8T>C MANE Select	NP_001018125.1:n.1546-8T>C
NM_001319984.2:c.1546-8T>C	NP_001306913.1:n.1546-8T>C
NM_001374253.1:c.1545+2874T>C	NP_001361182.1:n.1545+2874T>C
NM_001374254.1:c.1546-8T>C	NP_001361183.1:n.1546-8T>C
NM_033084.6:c.1546-8T>C	NP_149075.2:n.1546-8T>C