Canonical Allele Identifier: CA351733337

Gene: FANCD2

Linked Data

• MyVariant Identifiers: chr3:g.10106489C>G (hg19) ; chr3:g.10064805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10064805C>G , CM000665.2:g.10064805C>G	GRCh38
NC_000003.11:g.10106489C>G , CM000665.1:g.10106489C>G	GRCh37
NC_000003.10:g.10081489C>G	NCBI36
NG_007311.1:g.43377C>G , LRG_306:g.43377C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681997.1:n.1182C>G
ENST00000683263.1:n.1097C>G
ENST00000675286.1:c.2098C>G MANE Select	ENSP00000502379.1:p.Leu700Val
ENST00000676013.1:c.1987C>G	ENSP00000501999.1:p.Leu663Val
ENST00000287647.7:c.2098C>G	ENSP00000287647.3:p.Leu700Val
ENST00000383807.5:c.2098C>G	ENSP00000373318.1:p.Leu700Val
ENST00000419585.5:c.2098C>G	ENSP00000398754.1:p.Leu700Val
ENST00000421731.5:c.597C>G
ENST00000470757.5:n.152C>G
ENST00000480909.1:n.113C>G
NM_001018115.1:c.2098C>G , LRG_306t1:c.2098C>G	NP_001018125.1:p.Leu700Val
NM_033084.3:c.2098C>G , LRG_306t2:c.2098C>G	NP_149075.2:p.Leu700Val
XM_005264946.2:c.2098C>G	XP_005265003.1:p.Leu700Val
XM_005264947.2:c.103C>G	XP_005265004.1:p.Leu35Val
XM_006713021.2:c.2098C>G	XP_006713084.1:p.Leu700Val
XM_006713023.2:c.2098C>G	XP_006713086.1:p.Leu700Val
XM_006713024.2:c.2098C>G	XP_006713087.1:p.Leu700Val
XM_011533479.1:c.2098C>G	XP_011531781.1:p.Leu700Val
XM_011533480.1:c.949C>G	XP_011531782.1:p.Leu317Val
XR_940391.1:n.2218C>G
NM_001018115.2:c.2098C>G	NP_001018125.1:p.Leu700Val
NM_001319984.1:c.2098C>G	NP_001306913.1:p.Leu700Val
NM_033084.4:c.2098C>G	NP_149075.2:p.Leu700Val
NM_001018115.3:c.2098C>G MANE Select	NP_001018125.1:p.Leu700Val
NM_001319984.2:c.2098C>G	NP_001306913.1:p.Leu700Val
NM_001374253.1:c.1987C>G	NP_001361182.1:p.Leu663Val
NM_001374254.1:c.2098C>G	NP_001361183.1:p.Leu700Val
NM_033084.6:c.2098C>G	NP_149075.2:p.Leu700Val