Canonical Allele Identifier: CA2249459

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 381559
• ClinVar RCV Id: RCV000421802 ; RCV001535895 ; RCV002256229 ; RCV003234557
• dbSNP Id: rs112832879
• ExAC: 3:10085167 G / A
• gnomAD v2: 3-10085167-G-A
• gnomAD v3: 3-10043483-G-A
• gnomAD v4: 3-10043483-G-A
• MyVariant Identifiers: chr3:g.10085167G>A (hg19) ; chr3:g.10043483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10043483G>A , CM000665.2:g.10043483G>A	GRCh38
NC_000003.11:g.10085167G>A , CM000665.1:g.10085167G>A	GRCh37
NC_000003.10:g.10060167G>A	NCBI36
NG_007311.1:g.22055G>A , LRG_306:g.22055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682647.1:c.*910-1G>A	ENSP00000506736.1:n.*910-1G>A
ENST00000675286.1:c.990-1G>A MANE Select	ENSP00000502379.1:n.990-1G>A
ENST00000676013.1:c.990-1G>A	ENSP00000501999.1:n.990-1G>A
ENST00000287647.7:c.990-1G>A	ENSP00000287647.3:n.990-1G>A
ENST00000383807.5:c.990-1G>A	ENSP00000373318.1:n.990-1G>A
ENST00000419585.5:c.990-1G>A	ENSP00000398754.1:n.990-1G>A
NM_001018115.1:c.990-1G>A , LRG_306t1:c.990-1G>A	NP_001018125.1:n.990-1G>A
NM_033084.3:c.990-1G>A , LRG_306t2:c.990-1G>A	NP_149075.2:n.990-1G>A
XM_005264946.2:c.990-1G>A	XP_005265003.1:n.990-1G>A
XM_006713021.2:c.990-1G>A	XP_006713084.1:n.990-1G>A
XM_006713023.2:c.990-1G>A	XP_006713086.1:n.990-1G>A
XM_006713024.2:c.990-1G>A	XP_006713087.1:n.990-1G>A
XM_011533479.1:c.990-1G>A	XP_011531781.1:n.990-1G>A
XR_940391.1:n.1110-1G>A
NM_001018115.2:c.990-1G>A	NP_001018125.1:n.990-1G>A
NM_001319984.1:c.990-1G>A	NP_001306913.1:n.990-1G>A
NM_033084.4:c.990-1G>A	NP_149075.2:n.990-1G>A
NM_001018115.3:c.990-1G>A MANE Select	NP_001018125.1:n.990-1G>A
NM_001319984.2:c.990-1G>A	NP_001306913.1:n.990-1G>A
NM_001374253.1:c.990-1G>A	NP_001361182.1:n.990-1G>A
NM_001374254.1:c.990-1G>A	NP_001361183.1:n.990-1G>A
NM_033084.6:c.990-1G>A	NP_149075.2:n.990-1G>A