Canonical Allele Identifier: CA2249127

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 414650
• ClinVar RCV Id: RCV001428154
• dbSNP Id: rs771445756
• ExAC: 3:10074634 G / A
• gnomAD v2: 3-10074634-G-A
• gnomAD v3: 3-10032950-G-A
• gnomAD v4: 3-10032950-G-A
• MyVariant Identifiers: chr3:g.10074634G>A (hg19) ; chr3:g.10032950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10032950G>A , CM000665.2:g.10032950G>A	GRCh38
NC_000003.11:g.10074634G>A , CM000665.1:g.10074634G>A	GRCh37
NC_000003.10:g.10049634G>A	NCBI36
NG_007311.1:g.11522G>A , LRG_306:g.11522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682647.1:c.*191G>A	ENSP00000506736.1:n.*191G>A
ENST00000675286.1:c.183G>A MANE Select	ENSP00000502379.1:p.Thr61=
ENST00000676013.1:c.183G>A	ENSP00000501999.1:p.Thr61=
ENST00000287647.7:c.183G>A	ENSP00000287647.3:p.Thr61=
ENST00000383807.5:c.183G>A	ENSP00000373318.1:p.Thr61=
ENST00000419585.5:c.183G>A	ENSP00000398754.1:p.Thr61=
ENST00000431693.1:c.183G>A	ENSP00000399354.1:p.Thr61=
ENST00000435522.5:c.*191G>A	ENSP00000402166.1:n.*191G>A
NM_001018115.1:c.183G>A , LRG_306t1:c.183G>A	NP_001018125.1:p.Thr61=
NM_033084.3:c.183G>A , LRG_306t2:c.183G>A	NP_149075.2:p.Thr61=
XM_005264946.2:c.183G>A	XP_005265003.1:p.Thr61=
XM_006713021.2:c.183G>A	XP_006713084.1:p.Thr61=
XM_006713023.2:c.183G>A	XP_006713086.1:p.Thr61=
XM_006713024.2:c.183G>A	XP_006713087.1:p.Thr61=
XM_011533479.1:c.183G>A	XP_011531781.1:p.Thr61=
XR_940391.1:n.303G>A
NM_001018115.2:c.183G>A	NP_001018125.1:p.Thr61=
NM_001319984.1:c.183G>A	NP_001306913.1:p.Thr61=
NM_033084.4:c.183G>A	NP_149075.2:p.Thr61=
NM_001018115.3:c.183G>A MANE Select	NP_001018125.1:p.Thr61=
NM_001319984.2:c.183G>A	NP_001306913.1:p.Thr61=
NM_001374253.1:c.183G>A	NP_001361182.1:p.Thr61=
NM_001374254.1:c.183G>A	NP_001361183.1:p.Thr61=
NM_001374255.1:c.183G>A	NP_001361184.1:p.Thr61=
NM_033084.6:c.183G>A	NP_149075.2:p.Thr61=