Canonical Allele Identifier: CA351715944
Community Standard Title: NM_001018115.3(FANCD2):c.64+2T>G
Gene: FANCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10028723T>G , CM000665.2:g.10028723T>G GRCh38
NC_000003.11:g.10070407T>G , CM000665.1:g.10070407T>G GRCh37
NC_000003.10:g.10045407T>G NCBI36
NG_007311.1:g.7295T>G , LRG_306:g.7295T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001018115.3:c.64+2T>G MANE Select NP_001018125.1:n.64+2T>G
ENST00000675286.1:c.64+2T>G MANE Select ENSP00000502379.1:n.64+2T>G
NM_001018115.1:c.64+2T>G , LRG_306t1:c.64+2T>G NP_001018125.1:n.64+2T>G
NM_001018115.2:c.64+2T>G NP_001018125.1:n.64+2T>G
NM_001319984.1:c.64+2T>G NP_001306913.1:n.64+2T>G
NM_001319984.2:c.64+2T>G NP_001306913.1:n.64+2T>G
NM_001374253.1:c.64+2T>G NP_001361182.1:n.64+2T>G
NM_001374254.1:c.64+2T>G NP_001361183.1:n.64+2T>G
NM_001374255.1:c.64+2T>G NP_001361184.1:n.64+2T>G
NM_033084.3:c.64+2T>G , LRG_306t2:c.64+2T>G NP_149075.2:n.64+2T>G
NM_033084.4:c.64+2T>G NP_149075.2:n.64+2T>G
NM_033084.6:c.64+2T>G NP_149075.2:n.64+2T>G
ENST00000287647.7:c.64+2T>G ENSP00000287647.3:n.64+2T>G
ENST00000383807.5:c.64+2T>G ENSP00000373318.1:n.64+2T>G
ENST00000419585.5:c.64+2T>G ENSP00000398754.1:n.64+2T>G
ENST00000431693.1:c.64+2T>G ENSP00000399354.1:n.64+2T>G
ENST00000435522.5:c.64+2T>G ENSP00000402166.1:n.64+2T>G
ENST00000625535.1:c.64+2T>G ENSP00000486945.1:n.64+2T>G
ENST00000676013.1:c.64+2T>G ENSP00000501999.1:n.64+2T>G
ENST00000682647.1:c.64+2T>G ENSP00000506736.1:n.64+2T>G
XM_005264946.2:c.64+2T>G XP_005265003.1:n.64+2T>G
XM_006713021.2:c.64+2T>G XP_006713084.1:n.64+2T>G
XM_006713023.2:c.64+2T>G XP_006713086.1:n.64+2T>G
XM_006713024.2:c.64+2T>G XP_006713087.1:n.64+2T>G
XM_011533479.1:c.64+2T>G XP_011531781.1:n.64+2T>G
XR_940391.1:n.184+2T>G