Canonical Allele Identifier: CA70026020
Community Standard Title: NM_001018115.3(FANCD2):c.696-1G>A
Gene: FANCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10041622G>A , CM000665.2:g.10041622G>A GRCh38
NC_000003.11:g.10083306G>A , CM000665.1:g.10083306G>A GRCh37
NC_000003.10:g.10058306G>A NCBI36
NG_007311.1:g.20194G>A , LRG_306:g.20194G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001018115.3:c.696-1G>A MANE Select NP_001018125.1:n.696-1G>A
ENST00000675286.1:c.696-1G>A MANE Select ENSP00000502379.1:n.696-1G>A
NM_001018115.1:c.696-1G>A , LRG_306t1:c.696-1G>A NP_001018125.1:n.696-1G>A
NM_001018115.2:c.696-1G>A NP_001018125.1:n.696-1G>A
NM_001319984.1:c.696-1G>A NP_001306913.1:n.696-1G>A
NM_001319984.2:c.696-1G>A NP_001306913.1:n.696-1G>A
NM_001374253.1:c.696-1G>A NP_001361182.1:n.696-1G>A
NM_001374254.1:c.696-1G>A NP_001361183.1:n.696-1G>A
NM_033084.3:c.696-1G>A , LRG_306t2:c.696-1G>A NP_149075.2:n.696-1G>A
NM_033084.4:c.696-1G>A NP_149075.2:n.696-1G>A
NM_033084.6:c.696-1G>A NP_149075.2:n.696-1G>A
ENST00000287647.7:c.696-1G>A ENSP00000287647.3:n.696-1G>A
ENST00000383807.5:c.696-1G>A ENSP00000373318.1:n.696-1G>A
ENST00000419585.5:c.696-1G>A ENSP00000398754.1:n.696-1G>A
ENST00000676013.1:c.696-1G>A ENSP00000501999.1:n.696-1G>A
ENST00000682647.1:c.*704-937G>A ENSP00000506736.1:n.*704-937G>A
XM_005264946.2:c.696-1G>A XP_005265003.1:n.696-1G>A
XM_006713021.2:c.696-1G>A XP_006713084.1:n.696-1G>A
XM_006713023.2:c.696-1G>A XP_006713086.1:n.696-1G>A
XM_006713024.2:c.696-1G>A XP_006713087.1:n.696-1G>A
XM_011533479.1:c.696-1G>A XP_011531781.1:n.696-1G>A
XR_940391.1:n.816-1G>A