Canonical Allele Identifier: CA2250078

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 414655
• ClinVar RCV Id: RCV000470426 ; RCV001148313 ; RCV003431027
• dbSNP Id: rs61751577
• ExAC: 3:10108925 T / G
• gnomAD v2: 3-10108925-T-G
• gnomAD v3: 3-10067241-T-G
• gnomAD v4: 3-10067241-T-G
• MyVariant Identifiers: chr3:g.10108925T>G (hg19) ; chr3:g.10067241T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10067241T>G , CM000665.2:g.10067241T>G	GRCh38
NC_000003.11:g.10108925T>G , CM000665.1:g.10108925T>G	GRCh37
NC_000003.10:g.10083925T>G	NCBI36
NG_007311.1:g.45813T>G , LRG_306:g.45813T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.1502T>G
ENST00000683263.1:n.1417T>G
ENST00000675286.1:c.2418T>G MANE Select	ENSP00000502379.1:p.Pro806=
ENST00000676013.1:c.2307T>G	ENSP00000501999.1:p.Pro769=
ENST00000287647.7:c.2418T>G	ENSP00000287647.3:p.Pro806=
ENST00000383807.5:c.2418T>G	ENSP00000373318.1:p.Pro806=
ENST00000419585.5:c.2418T>G	ENSP00000398754.1:p.Pro806=
ENST00000421731.5:c.917T>G
ENST00000470757.5:n.439+1262T>G
ENST00000480909.1:n.433T>G
NM_001018115.1:c.2418T>G , LRG_306t1:c.2418T>G	NP_001018125.1:p.Pro806=
NM_033084.3:c.2418T>G , LRG_306t2:c.2418T>G	NP_149075.2:p.Pro806=
XM_005264946.2:c.2418T>G	XP_005265003.1:p.Pro806=
XM_005264947.2:c.423T>G	XP_005265004.1:p.Pro141=
XM_006713021.2:c.2418T>G	XP_006713084.1:p.Pro806=
XM_006713023.2:c.2418T>G	XP_006713086.1:p.Pro806=
XM_006713024.2:c.2418T>G	XP_006713087.1:p.Pro806=
XM_011533479.1:c.2418T>G	XP_011531781.1:p.Pro806=
XM_011533480.1:c.1269T>G	XP_011531782.1:p.Pro423=
XR_940391.1:n.2505+1262T>G
NM_001018115.2:c.2418T>G	NP_001018125.1:p.Pro806=
NM_001319984.1:c.2418T>G	NP_001306913.1:p.Pro806=
NM_033084.4:c.2418T>G	NP_149075.2:p.Pro806=
NM_001018115.3:c.2418T>G MANE Select	NP_001018125.1:p.Pro806=
NM_001319984.2:c.2418T>G	NP_001306913.1:p.Pro806=
NM_001374253.1:c.2307T>G	NP_001361182.1:p.Pro769=
NM_001374254.1:c.2418T>G	NP_001361183.1:p.Pro806=
NM_033084.6:c.2418T>G	NP_149075.2:p.Pro806=