Canonical Allele Identifier: CA2250142

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 342370
• ClinVar RCV Id: RCV000383944 ; RCV000504499 ; RCV001094917 ; RCV003950197 ; RCV003229830
• dbSNP Id: rs56041034
• ExAC: 3:10114944 A / C
• gnomAD v2: 3-10114944-A-C
• gnomAD v3: 3-10073260-A-C
• gnomAD v4: 3-10073260-A-C
• MyVariant Identifiers: chr3:g.10114944A>C (hg19) ; chr3:g.10073260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10073260A>C , CM000665.2:g.10073260A>C	GRCh38
NC_000003.11:g.10114944A>C , CM000665.1:g.10114944A>C	GRCh37
NC_000003.10:g.10089944A>C	NCBI36
NG_007311.1:g.51832A>C , LRG_306:g.51832A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.1697A>C
ENST00000683263.1:n.1612A>C
ENST00000675286.1:c.2613A>C MANE Select	ENSP00000502379.1:p.Lys871Asn
ENST00000676013.1:c.2502A>C	ENSP00000501999.1:p.Lys834Asn
ENST00000287647.7:c.2613A>C	ENSP00000287647.3:p.Lys871Asn
ENST00000383807.5:c.2613A>C	ENSP00000373318.1:p.Lys871Asn
ENST00000419585.5:c.2613A>C	ENSP00000398754.1:p.Lys871Asn
ENST00000421731.5:c.1112A>C
NM_001018115.1:c.2613A>C , LRG_306t1:c.2613A>C	NP_001018125.1:p.Lys871Asn
NM_033084.3:c.2613A>C , LRG_306t2:c.2613A>C	NP_149075.2:p.Lys871Asn
XM_005264946.2:c.2613A>C	XP_005265003.1:p.Lys871Asn
XM_005264947.2:c.618A>C	XP_005265004.1:p.Lys206Asn
XM_006713021.2:c.2613A>C	XP_006713084.1:p.Lys871Asn
XM_006713023.2:c.2613A>C	XP_006713086.1:p.Lys871Asn
XM_006713024.2:c.2613A>C	XP_006713087.1:p.Lys871Asn
XM_011533479.1:c.2613A>C	XP_011531781.1:p.Lys871Asn
XM_011533480.1:c.1464A>C	XP_011531782.1:p.Lys488Asn
XR_940391.1:n.2624A>C
NM_001018115.2:c.2613A>C	NP_001018125.1:p.Lys871Asn
NM_001319984.1:c.2613A>C	NP_001306913.1:p.Lys871Asn
NM_033084.4:c.2613A>C	NP_149075.2:p.Lys871Asn
NM_001018115.3:c.2613A>C MANE Select	NP_001018125.1:p.Lys871Asn
NM_001319984.2:c.2613A>C	NP_001306913.1:p.Lys871Asn
NM_001374253.1:c.2502A>C	NP_001361182.1:p.Lys834Asn
NM_001374254.1:c.2613A>C	NP_001361183.1:p.Lys871Asn
NM_033084.6:c.2613A>C	NP_149075.2:p.Lys871Asn