Canonical Allele Identifier: CA2250626
Community Standard Title: NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10096387T>G , CM000665.2:g.10096387T>G GRCh38
NC_000003.11:g.10138071T>G , CM000665.1:g.10138071T>G GRCh37
NC_000003.10:g.10113071T>G NCBI36
NG_007311.1:g.74959T>G , LRG_306:g.74959T>G
NG_042053.1:g.16845A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001018115.3:c.4100T>G (FANCD2) MANE Select NP_001018125.1:p.Leu1367Ter
ENST00000675286.1:c.4100T>G (FANCD2) MANE Select ENSP00000502379.1:p.Leu1367Ter
NM_001018115.1:c.4100T>G , LRG_306t1:c.4100T>G (FANCD2) NP_001018125.1:p.Leu1367Ter
NM_001018115.2:c.4100T>G (FANCD2) NP_001018125.1:p.Leu1367Ter
NM_001319984.1:c.4100T>G (FANCD2) NP_001306913.1:p.Leu1367Ter
NM_001319984.2:c.4100T>G (FANCD2) NP_001306913.1:p.Leu1367Ter
NM_001374253.1:c.3989T>G (FANCD2) NP_001361182.1:p.Leu1330Ter
NM_001374254.1:c.4061T>G (FANCD2) NP_001361183.1:p.Leu1354Ter
NM_033084.3:c.4100T>G , LRG_306t2:c.4100T>G (FANCD2) NP_149075.2:p.Leu1367Ter
NM_033084.4:c.4100T>G (FANCD2) NP_149075.2:p.Leu1367Ter
NM_033084.6:c.4100T>G (FANCD2) NP_149075.2:p.Leu1367Ter
NM_173472.1:c.*43+7811A>C (FANCD2OS) NP_775743.1:n.*43+7811A>C
NM_173472.2:c.*43+7811A>C (FANCD2OS) NP_775743.1:n.*43+7811A>C
ENST00000287647.7:c.4100T>G (FANCD2) ENSP00000287647.3:p.Leu1367Ter
ENST00000383807.5:c.4100T>G (FANCD2) ENSP00000373318.1:p.Leu1367Ter
ENST00000419585.5:c.4100T>G (FANCD2) ENSP00000398754.1:p.Leu1367Ter
ENST00000421731.5:c.2505T>G (FANCD2)
ENST00000431315.5:n.71-1497A>C (FANCD2OS)
ENST00000470028.1:n.173T>G (FANCD2)
ENST00000524279.1:c.*43+7811A>C (FANCD2OS) ENSP00000429663.1:n.*43+7811A>C
ENST00000676013.1:c.3989T>G (FANCD2) ENSP00000501999.1:p.Leu1330Ter
ENST00000681997.1:n.3184T>G (FANCD2)
ENST00000683263.1:n.3099T>G (FANCD2)
ENST00000683312.1:n.3651T>G (FANCD2)
XM_005264946.2:c.4100T>G (FANCD2) XP_005265003.1:p.Leu1367Ter
XM_005264947.2:c.2105T>G (FANCD2) XP_005265004.1:p.Leu702Ter
XM_006713021.2:c.4100T>G (FANCD2) XP_006713084.1:p.Leu1367Ter
XM_006713023.2:c.4061T>G (FANCD2) XP_006713086.1:p.Leu1354Ter
XM_006713024.2:c.3983T>G (FANCD2) XP_006713087.1:p.Leu1328Ter
XM_011533480.1:c.2951T>G (FANCD2) XP_011531782.1:p.Leu984Ter