Canonical Allele Identifier: CA351757648
Community Standard Title: NM_001018115.3(FANCD2):c.4063C>T (p.Gln1355Ter)
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10096350C>T , CM000665.2:g.10096350C>T GRCh38
NC_000003.11:g.10138034C>T , CM000665.1:g.10138034C>T GRCh37
NC_000003.10:g.10113034C>T NCBI36
NG_007311.1:g.74922C>T , LRG_306:g.74922C>T
NG_042053.1:g.16882G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001018115.3:c.4063C>T (FANCD2) MANE Select NP_001018125.1:p.Gln1355Ter
ENST00000675286.1:c.4063C>T (FANCD2) MANE Select ENSP00000502379.1:p.Gln1355Ter
NM_001018115.1:c.4063C>T , LRG_306t1:c.4063C>T (FANCD2) NP_001018125.1:p.Gln1355Ter
NM_001018115.2:c.4063C>T (FANCD2) NP_001018125.1:p.Gln1355Ter
NM_001319984.1:c.4063C>T (FANCD2) NP_001306913.1:p.Gln1355Ter
NM_001319984.2:c.4063C>T (FANCD2) NP_001306913.1:p.Gln1355Ter
NM_001374253.1:c.3952C>T (FANCD2) NP_001361182.1:p.Gln1318Ter
NM_001374254.1:c.4024C>T (FANCD2) NP_001361183.1:p.Gln1342Ter
NM_033084.3:c.4063C>T , LRG_306t2:c.4063C>T (FANCD2) NP_149075.2:p.Gln1355Ter
NM_033084.4:c.4063C>T (FANCD2) NP_149075.2:p.Gln1355Ter
NM_033084.6:c.4063C>T (FANCD2) NP_149075.2:p.Gln1355Ter
NM_173472.1:c.*43+7848G>A (FANCD2OS) NP_775743.1:n.*43+7848G>A
NM_173472.2:c.*43+7848G>A (FANCD2OS) NP_775743.1:n.*43+7848G>A
ENST00000287647.7:c.4063C>T (FANCD2) ENSP00000287647.3:p.Gln1355Ter
ENST00000383807.5:c.4063C>T (FANCD2) ENSP00000373318.1:p.Gln1355Ter
ENST00000419585.5:c.4063C>T (FANCD2) ENSP00000398754.1:p.Gln1355Ter
ENST00000421731.5:c.2468C>T (FANCD2)
ENST00000431315.5:n.71-1460G>A (FANCD2OS)
ENST00000470028.1:n.136C>T (FANCD2)
ENST00000524279.1:c.*43+7848G>A (FANCD2OS) ENSP00000429663.1:n.*43+7848G>A
ENST00000676013.1:c.3952C>T (FANCD2) ENSP00000501999.1:p.Gln1318Ter
ENST00000681997.1:n.3147C>T (FANCD2)
ENST00000683263.1:n.3062C>T (FANCD2)
ENST00000683312.1:n.3614C>T (FANCD2)
ENST00000683933.1:n.821C>T (FANCD2)
XM_005264946.2:c.4063C>T (FANCD2) XP_005265003.1:p.Gln1355Ter
XM_005264947.2:c.2068C>T (FANCD2) XP_005265004.1:p.Gln690Ter
XM_006713021.2:c.4063C>T (FANCD2) XP_006713084.1:p.Gln1355Ter
XM_006713023.2:c.4024C>T (FANCD2) XP_006713086.1:p.Gln1342Ter
XM_006713024.2:c.3946C>T (FANCD2) XP_006713087.1:p.Gln1316Ter
XM_011533480.1:c.2914C>T (FANCD2) XP_011531782.1:p.Gln972Ter