Canonical Allele Identifier: CA351748092

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10081226C>T , CM000665.2:g.10081226C>T	GRCh38
NC_000003.11:g.10122910C>T , CM000665.1:g.10122910C>T	GRCh37
NC_000003.10:g.10097910C>T	NCBI36
NG_007311.1:g.59798C>T , LRG_306:g.59798C>T
NG_042053.1:g.32006G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.3103C>T MANE Select	NP_001018125.1:p.Gln1035Ter
ENST00000675286.1:c.3103C>T MANE Select	ENSP00000502379.1:p.Gln1035Ter
NM_001018115.1:c.3103C>T , LRG_306t1:c.3103C>T	NP_001018125.1:p.Gln1035Ter
NM_001018115.2:c.3103C>T	NP_001018125.1:p.Gln1035Ter
NM_001319984.1:c.3103C>T	NP_001306913.1:p.Gln1035Ter
NM_001319984.2:c.3103C>T	NP_001306913.1:p.Gln1035Ter
NM_001374253.1:c.2992C>T	NP_001361182.1:p.Gln998Ter
NM_001374254.1:c.3103C>T	NP_001361183.1:p.Gln1035Ter
NM_033084.3:c.3103C>T , LRG_306t2:c.3103C>T	NP_149075.2:p.Gln1035Ter
NM_033084.4:c.3103C>T	NP_149075.2:p.Gln1035Ter
NM_033084.6:c.3103C>T	NP_149075.2:p.Gln1035Ter
ENST00000287647.7:c.3103C>T	ENSP00000287647.3:p.Gln1035Ter
ENST00000383807.5:c.3103C>T	ENSP00000373318.1:p.Gln1035Ter
ENST00000419585.5:c.3103C>T	ENSP00000398754.1:p.Gln1035Ter
ENST00000421731.5:c.1602C>T
ENST00000676013.1:c.2992C>T	ENSP00000501999.1:p.Gln998Ter
ENST00000681997.1:n.2187C>T
ENST00000683263.1:n.2102C>T
ENST00000683933.1:n.142C>T
XM_005264946.2:c.3103C>T	XP_005265003.1:p.Gln1035Ter
XM_005264947.2:c.1108C>T	XP_005265004.1:p.Gln370Ter
XM_006713021.2:c.3103C>T	XP_006713084.1:p.Gln1035Ter
XM_006713023.2:c.3103C>T	XP_006713086.1:p.Gln1035Ter
XM_006713024.2:c.2986C>T	XP_006713087.1:p.Gln996Ter
XM_011533479.1:c.3103C>T	XP_011531781.1:p.Gln1035Ter
XM_011533480.1:c.1954C>T	XP_011531782.1:p.Gln652Ter