Canonical Allele Identifier: CA351751916

Gene: FANCD2 FANCD2OS

Linked Data

• dbSNP Id: rs953039787
• MyVariant Identifiers: chr3:g.10128824C>G (hg19) ; chr3:g.10087140C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10087140C>G , CM000665.2:g.10087140C>G	GRCh38
NC_000003.11:g.10128824C>G , CM000665.1:g.10128824C>G	GRCh37
NC_000003.10:g.10103824C>G	NCBI36
NG_007311.1:g.65712C>G , LRG_306:g.65712C>G
NG_042053.1:g.26092G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.2426C>G (FANCD2)
ENST00000683263.1:n.2341C>G (FANCD2)
ENST00000683933.1:n.264-1309C>G (FANCD2)
ENST00000675286.1:c.3342C>G (FANCD2) MANE Select	ENSP00000502379.1:p.Ser1114Arg
ENST00000676013.1:c.3231C>G (FANCD2)	ENSP00000501999.1:p.Ser1077Arg
ENST00000287647.7:c.3342C>G (FANCD2)	ENSP00000287647.3:p.Ser1114Arg
ENST00000383807.5:c.3342C>G (FANCD2)	ENSP00000373318.1:p.Ser1114Arg
ENST00000419585.5:c.3342C>G (FANCD2)	ENSP00000398754.1:p.Ser1114Arg
ENST00000421731.5:c.1841C>G (FANCD2)
ENST00000431315.5:n.196G>C (FANCD2OS)
ENST00000436517.5:n.217G>C (FANCD2OS)
ENST00000524279.1:c.*44-5609G>C (FANCD2OS)	ENSP00000429663.1:n.*44-5609G>C
NM_001018115.1:c.3342C>G , LRG_306t1:c.3342C>G (FANCD2)	NP_001018125.1:p.Ser1114Arg
NM_033084.3:c.3342C>G , LRG_306t2:c.3342C>G (FANCD2)	NP_149075.2:p.Ser1114Arg
NM_173472.1:c.*44-5609G>C (FANCD2OS)	NP_775743.1:n.*44-5609G>C
XM_005264946.2:c.3342C>G (FANCD2)	XP_005265003.1:p.Ser1114Arg
XM_005264947.2:c.1347C>G (FANCD2)	XP_005265004.1:p.Ser449Arg
XM_006713021.2:c.3342C>G (FANCD2)	XP_006713084.1:p.Ser1114Arg
XM_006713023.2:c.3342C>G (FANCD2)	XP_006713086.1:p.Ser1114Arg
XM_006713024.2:c.3225C>G (FANCD2)	XP_006713087.1:p.Ser1075Arg
XM_011533479.1:c.3342C>G (FANCD2)	XP_011531781.1:p.Ser1114Arg
XM_011533480.1:c.2193C>G (FANCD2)	XP_011531782.1:p.Ser731Arg
NM_001018115.2:c.3342C>G (FANCD2)	NP_001018125.1:p.Ser1114Arg
NM_001319984.1:c.3342C>G (FANCD2)	NP_001306913.1:p.Ser1114Arg
NM_033084.4:c.3342C>G (FANCD2)	NP_149075.2:p.Ser1114Arg
NM_001018115.3:c.3342C>G (FANCD2) MANE Select	NP_001018125.1:p.Ser1114Arg
NM_001319984.2:c.3342C>G (FANCD2)	NP_001306913.1:p.Ser1114Arg
NM_001374253.1:c.3231C>G (FANCD2)	NP_001361182.1:p.Ser1077Arg
NM_001374254.1:c.3342C>G (FANCD2)	NP_001361183.1:p.Ser1114Arg
NM_033084.6:c.3342C>G (FANCD2)	NP_149075.2:p.Ser1114Arg
NM_173472.2:c.*44-5609G>C (FANCD2OS)	NP_775743.1:n.*44-5609G>C