Canonical Allele Identifier: CA2250085

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 241735
• ClinVar RCV Id: RCV000234321 ; RCV001194923
• dbSNP Id: rs766567785
• ExAC: 3:10108951 G / A
• gnomAD v2: 3-10108951-G-A
• gnomAD v3: 3-10067267-G-A
• gnomAD v4: 3-10067267-G-A
• MyVariant Identifiers: chr3:g.10108951G>A (hg19) ; chr3:g.10067267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10067267G>A , CM000665.2:g.10067267G>A	GRCh38
NC_000003.11:g.10108951G>A , CM000665.1:g.10108951G>A	GRCh37
NC_000003.10:g.10083951G>A	NCBI36
NG_007311.1:g.45839G>A , LRG_306:g.45839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.1528G>A
ENST00000683263.1:n.1443G>A
ENST00000675286.1:c.2444G>A MANE Select	ENSP00000502379.1:p.Arg815Gln
ENST00000676013.1:c.2333G>A	ENSP00000501999.1:p.Arg778Gln
ENST00000287647.7:c.2444G>A	ENSP00000287647.3:p.Arg815Gln
ENST00000383807.5:c.2444G>A	ENSP00000373318.1:p.Arg815Gln
ENST00000419585.5:c.2444G>A	ENSP00000398754.1:p.Arg815Gln
ENST00000421731.5:c.943G>A
ENST00000470757.5:n.439+1288G>A
ENST00000480909.1:n.459G>A
NM_001018115.1:c.2444G>A , LRG_306t1:c.2444G>A	NP_001018125.1:p.Arg815Gln
NM_033084.3:c.2444G>A , LRG_306t2:c.2444G>A	NP_149075.2:p.Arg815Gln
XM_005264946.2:c.2444G>A	XP_005265003.1:p.Arg815Gln
XM_005264947.2:c.449G>A	XP_005265004.1:p.Arg150Gln
XM_006713021.2:c.2444G>A	XP_006713084.1:p.Arg815Gln
XM_006713023.2:c.2444G>A	XP_006713086.1:p.Arg815Gln
XM_006713024.2:c.2444G>A	XP_006713087.1:p.Arg815Gln
XM_011533479.1:c.2444G>A	XP_011531781.1:p.Arg815Gln
XM_011533480.1:c.1295G>A	XP_011531782.1:p.Arg432Gln
XR_940391.1:n.2505+1288G>A
NM_001018115.2:c.2444G>A	NP_001018125.1:p.Arg815Gln
NM_001319984.1:c.2444G>A	NP_001306913.1:p.Arg815Gln
NM_033084.4:c.2444G>A	NP_149075.2:p.Arg815Gln
NM_001018115.3:c.2444G>A MANE Select	NP_001018125.1:p.Arg815Gln
NM_001319984.2:c.2444G>A	NP_001306913.1:p.Arg815Gln
NM_001374253.1:c.2333G>A	NP_001361182.1:p.Arg778Gln
NM_001374254.1:c.2444G>A	NP_001361183.1:p.Arg815Gln
NM_033084.6:c.2444G>A	NP_149075.2:p.Arg815Gln