Canonical Allele Identifier: CA2250124

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 265138
• ClinVar RCV Id: RCV000255506 ; RCV001332747 ; RCV001855003
• dbSNP Id: rs142365855
• ExAC: 3:10114666 G / A
• gnomAD v2: 3-10114666-G-A
• gnomAD v3: 3-10072982-G-A
• gnomAD v4: 3-10072982-G-A
• MyVariant Identifiers: chr3:g.10114666G>A (hg19) ; chr3:g.10072982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10072982G>A , CM000665.2:g.10072982G>A	GRCh38
NC_000003.11:g.10114666G>A , CM000665.1:g.10114666G>A	GRCh37
NC_000003.10:g.10089666G>A	NCBI36
NG_007311.1:g.51554G>A , LRG_306:g.51554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.1689+1G>A
ENST00000683263.1:n.1604+1G>A
ENST00000675286.1:c.2605+1G>A MANE Select	ENSP00000502379.1:n.2605+1G>A
ENST00000676013.1:c.2494+1G>A	ENSP00000501999.1:n.2494+1G>A
ENST00000287647.7:c.2605+1G>A	ENSP00000287647.3:n.2605+1G>A
ENST00000383807.5:c.2605+1G>A	ENSP00000373318.1:n.2605+1G>A
ENST00000419585.5:c.2605+1G>A	ENSP00000398754.1:n.2605+1G>A
ENST00000421731.5:c.1104+1G>A
NM_001018115.1:c.2605+1G>A , LRG_306t1:c.2605+1G>A	NP_001018125.1:n.2605+1G>A
NM_033084.3:c.2605+1G>A , LRG_306t2:c.2605+1G>A	NP_149075.2:n.2605+1G>A
XM_005264946.2:c.2605+1G>A	XP_005265003.1:n.2605+1G>A
XM_005264947.2:c.610+1G>A	XP_005265004.1:n.610+1G>A
XM_006713021.2:c.2605+1G>A	XP_006713084.1:n.2605+1G>A
XM_006713023.2:c.2605+1G>A	XP_006713086.1:n.2605+1G>A
XM_006713024.2:c.2605+1G>A	XP_006713087.1:n.2605+1G>A
XM_011533479.1:c.2605+1G>A	XP_011531781.1:n.2605+1G>A
XM_011533480.1:c.1456+1G>A	XP_011531782.1:n.1456+1G>A
XR_940391.1:n.2616+1G>A
NM_001018115.2:c.2605+1G>A	NP_001018125.1:n.2605+1G>A
NM_001319984.1:c.2605+1G>A	NP_001306913.1:n.2605+1G>A
NM_033084.4:c.2605+1G>A	NP_149075.2:n.2605+1G>A
NM_001018115.3:c.2605+1G>A MANE Select	NP_001018125.1:n.2605+1G>A
NM_001319984.2:c.2605+1G>A	NP_001306913.1:n.2605+1G>A
NM_001374253.1:c.2494+1G>A	NP_001361182.1:n.2494+1G>A
NM_001374254.1:c.2605+1G>A	NP_001361183.1:n.2605+1G>A
NM_033084.6:c.2605+1G>A	NP_149075.2:n.2605+1G>A