Canonical Allele Identifier: CA351738612

Gene: FANCD2

Linked Data

• ClinVar Variation Id: 526371
• ClinVar RCV Id: RCV000630893 ; RCV000657573 ; RCV001784202
• dbSNP Id: rs1289665675
• gnomAD v2: 3-10108994-C-G
• gnomAD v4: 3-10067310-C-G
• MyVariant Identifiers: chr3:g.10108994C>G (hg19) ; chr3:g.10067310C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10067310C>G , CM000665.2:g.10067310C>G	GRCh38
NC_000003.11:g.10108994C>G , CM000665.1:g.10108994C>G	GRCh37
NC_000003.10:g.10083994C>G	NCBI36
NG_007311.1:g.45882C>G , LRG_306:g.45882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.1571C>G
ENST00000683263.1:n.1486C>G
ENST00000675286.1:c.2487C>G MANE Select	ENSP00000502379.1:p.Tyr829Ter
ENST00000676013.1:c.2376C>G	ENSP00000501999.1:p.Tyr792Ter
ENST00000287647.7:c.2487C>G	ENSP00000287647.3:p.Tyr829Ter
ENST00000383807.5:c.2487C>G	ENSP00000373318.1:p.Tyr829Ter
ENST00000419585.5:c.2487C>G	ENSP00000398754.1:p.Tyr829Ter
ENST00000421731.5:c.986C>G
ENST00000470757.5:n.439+1331C>G
ENST00000480909.1:n.502C>G
NM_001018115.1:c.2487C>G , LRG_306t1:c.2487C>G	NP_001018125.1:p.Tyr829Ter
NM_033084.3:c.2487C>G , LRG_306t2:c.2487C>G	NP_149075.2:p.Tyr829Ter
XM_005264946.2:c.2487C>G	XP_005265003.1:p.Tyr829Ter
XM_005264947.2:c.492C>G	XP_005265004.1:p.Tyr164Ter
XM_006713021.2:c.2487C>G	XP_006713084.1:p.Tyr829Ter
XM_006713023.2:c.2487C>G	XP_006713086.1:p.Tyr829Ter
XM_006713024.2:c.2487C>G	XP_006713087.1:p.Tyr829Ter
XM_011533479.1:c.2487C>G	XP_011531781.1:p.Tyr829Ter
XM_011533480.1:c.1338C>G	XP_011531782.1:p.Tyr446Ter
XR_940391.1:n.2505+1331C>G
NM_001018115.2:c.2487C>G	NP_001018125.1:p.Tyr829Ter
NM_001319984.1:c.2487C>G	NP_001306913.1:p.Tyr829Ter
NM_033084.4:c.2487C>G	NP_149075.2:p.Tyr829Ter
NM_001018115.3:c.2487C>G MANE Select	NP_001018125.1:p.Tyr829Ter
NM_001319984.2:c.2487C>G	NP_001306913.1:p.Tyr829Ter
NM_001374253.1:c.2376C>G	NP_001361182.1:p.Tyr792Ter
NM_001374254.1:c.2487C>G	NP_001361183.1:p.Tyr829Ter
NM_033084.6:c.2487C>G	NP_149075.2:p.Tyr829Ter