Canonical Allele Identifier: CA2249762

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 456346
• ClinVar RCV Id: RCV000540839 ; RCV003316681
• dbSNP Id: rs201408009
• ExAC: 3:10101996 A / G
• gnomAD v2: 3-10101996-A-G
• gnomAD v3: 3-10060312-A-G
• gnomAD v4: 3-10060312-A-G
• MyVariant Identifiers: chr3:g.10101996A>G (hg19) ; chr3:g.10060312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10060312A>G , CM000665.2:g.10060312A>G	GRCh38
NC_000003.11:g.10101996A>G , CM000665.1:g.10101996A>G	GRCh37
NC_000003.10:g.10076996A>G	NCBI36
NG_007311.1:g.38884A>G , LRG_306:g.38884A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.759A>G
ENST00000682647.1:c.*1595A>G	ENSP00000506736.1:n.*1595A>G
ENST00000683263.1:n.674A>G
ENST00000675286.1:c.1675A>G MANE Select	ENSP00000502379.1:p.Ile559Val
ENST00000676013.1:c.1564A>G	ENSP00000501999.1:p.Ile522Val
ENST00000287647.7:c.1675A>G	ENSP00000287647.3:p.Ile559Val
ENST00000383807.5:c.1675A>G	ENSP00000373318.1:p.Ile559Val
ENST00000419585.5:c.1675A>G	ENSP00000398754.1:p.Ile559Val
ENST00000421731.5:c.174A>G
NM_001018115.1:c.1675A>G , LRG_306t1:c.1675A>G	NP_001018125.1:p.Ile559Val
NM_033084.3:c.1675A>G , LRG_306t2:c.1675A>G	NP_149075.2:p.Ile559Val
XM_005264946.2:c.1675A>G	XP_005265003.1:p.Ile559Val
XM_005264947.2:c.-247A>G	XP_005265004.1:n.-247A>G
XM_006713021.2:c.1675A>G	XP_006713084.1:p.Ile559Val
XM_006713023.2:c.1675A>G	XP_006713086.1:p.Ile559Val
XM_006713024.2:c.1675A>G	XP_006713087.1:p.Ile559Val
XM_011533479.1:c.1675A>G	XP_011531781.1:p.Ile559Val
XM_011533480.1:c.526A>G	XP_011531782.1:p.Ile176Val
XR_940391.1:n.1795A>G
NM_001018115.2:c.1675A>G	NP_001018125.1:p.Ile559Val
NM_001319984.1:c.1675A>G	NP_001306913.1:p.Ile559Val
NM_033084.4:c.1675A>G	NP_149075.2:p.Ile559Val
NM_001018115.3:c.1675A>G MANE Select	NP_001018125.1:p.Ile559Val
NM_001319984.2:c.1675A>G	NP_001306913.1:p.Ile559Val
NM_001374253.1:c.1564A>G	NP_001361182.1:p.Ile522Val
NM_001374254.1:c.1675A>G	NP_001361183.1:p.Ile559Val
NM_033084.6:c.1675A>G	NP_149075.2:p.Ile559Val