Canonical Allele Identifier: CA2249667

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 241732
• ClinVar RCV Id: RCV000234648 ; RCV001144941 ; RCV001557731 ; RCV002225530
• dbSNP Id: rs375412395
• ExAC: 3:10091084 T / C
• gnomAD v2: 3-10091084-T-C
• gnomAD v3: 3-10049400-T-C
• gnomAD v4: 3-10049400-T-C
• MyVariant Identifiers: chr3:g.10091084T>C (hg19) ; chr3:g.10049400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10049400T>C , CM000665.2:g.10049400T>C	GRCh38
NC_000003.11:g.10091084T>C , CM000665.1:g.10091084T>C	GRCh37
NC_000003.10:g.10066084T>C	NCBI36
NG_007311.1:g.27972T>C , LRG_306:g.27972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.524T>C
ENST00000682647.1:c.*1360T>C	ENSP00000506736.1:n.*1360T>C
ENST00000683263.1:n.439T>C
ENST00000675286.1:c.1440T>C MANE Select	ENSP00000502379.1:p.His480=
ENST00000676013.1:c.1440T>C	ENSP00000501999.1:p.His480=
ENST00000287647.7:c.1440T>C	ENSP00000287647.3:p.His480=
ENST00000383807.5:c.1440T>C	ENSP00000373318.1:p.His480=
ENST00000419585.5:c.1440T>C	ENSP00000398754.1:p.His480=
ENST00000464934.1:n.459T>C
NM_001018115.1:c.1440T>C , LRG_306t1:c.1440T>C	NP_001018125.1:p.His480=
NM_033084.3:c.1440T>C , LRG_306t2:c.1440T>C	NP_149075.2:p.His480=
XM_005264946.2:c.1440T>C	XP_005265003.1:p.His480=
XM_005264947.2:c.-482T>C	XP_005265004.1:n.-482T>C
XM_006713021.2:c.1440T>C	XP_006713084.1:p.His480=
XM_006713023.2:c.1440T>C	XP_006713086.1:p.His480=
XM_006713024.2:c.1440T>C	XP_006713087.1:p.His480=
XM_011533479.1:c.1440T>C	XP_011531781.1:p.His480=
XM_011533480.1:c.291T>C	XP_011531782.1:p.His97=
XR_940391.1:n.1560T>C
NM_001018115.2:c.1440T>C	NP_001018125.1:p.His480=
NM_001319984.1:c.1440T>C	NP_001306913.1:p.His480=
NM_033084.4:c.1440T>C	NP_149075.2:p.His480=
NM_001018115.3:c.1440T>C MANE Select	NP_001018125.1:p.His480=
NM_001319984.2:c.1440T>C	NP_001306913.1:p.His480=
NM_001374253.1:c.1440T>C	NP_001361182.1:p.His480=
NM_001374254.1:c.1440T>C	NP_001361183.1:p.His480=
NM_033084.6:c.1440T>C	NP_149075.2:p.His480=