Canonical Allele Identifier: CA2250094

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10067319T>C , CM000665.2:g.10067319T>C	GRCh38
NC_000003.11:g.10109003T>C , CM000665.1:g.10109003T>C	GRCh37
NC_000003.10:g.10084003T>C	NCBI36
NG_007311.1:g.45891T>C , LRG_306:g.45891T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.1578+2T>C
ENST00000683263.1:n.1493+2T>C
ENST00000675286.1:c.2494+2T>C MANE Select	ENSP00000502379.1:n.2494+2T>C
ENST00000676013.1:c.2383+2T>C	ENSP00000501999.1:n.2383+2T>C
ENST00000287647.7:c.2494+2T>C	ENSP00000287647.3:n.2494+2T>C
ENST00000383807.5:c.2494+2T>C	ENSP00000373318.1:n.2494+2T>C
ENST00000419585.5:c.2494+2T>C	ENSP00000398754.1:n.2494+2T>C
ENST00000421731.5:c.993+2T>C
ENST00000470757.5:n.439+1340T>C
ENST00000480909.1:n.509+2T>C
NM_001018115.1:c.2494+2T>C , LRG_306t1:c.2494+2T>C	NP_001018125.1:n.2494+2T>C
NM_033084.3:c.2494+2T>C , LRG_306t2:c.2494+2T>C	NP_149075.2:n.2494+2T>C
XM_005264946.2:c.2494+2T>C	XP_005265003.1:n.2494+2T>C
XM_005264947.2:c.499+2T>C	XP_005265004.1:n.499+2T>C
XM_006713021.2:c.2494+2T>C	XP_006713084.1:n.2494+2T>C
XM_006713023.2:c.2494+2T>C	XP_006713086.1:n.2494+2T>C
XM_006713024.2:c.2494+2T>C	XP_006713087.1:n.2494+2T>C
XM_011533479.1:c.2494+2T>C	XP_011531781.1:n.2494+2T>C
XM_011533480.1:c.1345+2T>C	XP_011531782.1:n.1345+2T>C
XR_940391.1:n.2505+1340T>C
NM_001018115.2:c.2494+2T>C	NP_001018125.1:n.2494+2T>C
NM_001319984.1:c.2494+2T>C	NP_001306913.1:n.2494+2T>C
NM_033084.4:c.2494+2T>C	NP_149075.2:n.2494+2T>C
NM_001018115.3:c.2494+2T>C MANE Select	NP_001018125.1:n.2494+2T>C
NM_001319984.2:c.2494+2T>C	NP_001306913.1:n.2494+2T>C
NM_001374253.1:c.2383+2T>C	NP_001361182.1:n.2383+2T>C
NM_001374254.1:c.2494+2T>C	NP_001361183.1:n.2494+2T>C
NM_033084.6:c.2494+2T>C	NP_149075.2:n.2494+2T>C