Canonical Allele Identifier: CA351751892

Gene: FANCD2 FANCD2OS

Linked Data

• ClinVar Variation Id: 1705663
• ClinVar RCV Id: RCV002283977
• MyVariant Identifiers: chr3:g.10128819C>T (hg19) ; chr3:g.10087135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10087135C>T , CM000665.2:g.10087135C>T	GRCh38
NC_000003.11:g.10128819C>T , CM000665.1:g.10128819C>T	GRCh37
NC_000003.10:g.10103819C>T	NCBI36
NG_007311.1:g.65707C>T , LRG_306:g.65707C>T
NG_042053.1:g.26097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681997.1:n.2421C>T (FANCD2)
ENST00000683263.1:n.2336C>T (FANCD2)
ENST00000683933.1:n.264-1314C>T (FANCD2)
ENST00000675286.1:c.3337C>T (FANCD2) MANE Select	ENSP00000502379.1:p.Gln1113Ter
ENST00000676013.1:c.3226C>T (FANCD2)	ENSP00000501999.1:p.Gln1076Ter
ENST00000287647.7:c.3337C>T (FANCD2)	ENSP00000287647.3:p.Gln1113Ter
ENST00000383807.5:c.3337C>T (FANCD2)	ENSP00000373318.1:p.Gln1113Ter
ENST00000419585.5:c.3337C>T (FANCD2)	ENSP00000398754.1:p.Gln1113Ter
ENST00000421731.5:c.1836C>T (FANCD2)
ENST00000431315.5:n.201G>A (FANCD2OS)
ENST00000436517.5:n.222G>A (FANCD2OS)
ENST00000524279.1:c.*44-5604G>A (FANCD2OS)	ENSP00000429663.1:n.*44-5604G>A
NM_001018115.1:c.3337C>T , LRG_306t1:c.3337C>T (FANCD2)	NP_001018125.1:p.Gln1113Ter
NM_033084.3:c.3337C>T , LRG_306t2:c.3337C>T (FANCD2)	NP_149075.2:p.Gln1113Ter
NM_173472.1:c.*44-5604G>A (FANCD2OS)	NP_775743.1:n.*44-5604G>A
XM_005264946.2:c.3337C>T (FANCD2)	XP_005265003.1:p.Gln1113Ter
XM_005264947.2:c.1342C>T (FANCD2)	XP_005265004.1:p.Gln448Ter
XM_006713021.2:c.3337C>T (FANCD2)	XP_006713084.1:p.Gln1113Ter
XM_006713023.2:c.3337C>T (FANCD2)	XP_006713086.1:p.Gln1113Ter
XM_006713024.2:c.3220C>T (FANCD2)	XP_006713087.1:p.Gln1074Ter
XM_011533479.1:c.3337C>T (FANCD2)	XP_011531781.1:p.Gln1113Ter
XM_011533480.1:c.2188C>T (FANCD2)	XP_011531782.1:p.Gln730Ter
NM_001018115.2:c.3337C>T (FANCD2)	NP_001018125.1:p.Gln1113Ter
NM_001319984.1:c.3337C>T (FANCD2)	NP_001306913.1:p.Gln1113Ter
NM_033084.4:c.3337C>T (FANCD2)	NP_149075.2:p.Gln1113Ter
NM_001018115.3:c.3337C>T (FANCD2) MANE Select	NP_001018125.1:p.Gln1113Ter
NM_001319984.2:c.3337C>T (FANCD2)	NP_001306913.1:p.Gln1113Ter
NM_001374253.1:c.3226C>T (FANCD2)	NP_001361182.1:p.Gln1076Ter
NM_001374254.1:c.3337C>T (FANCD2)	NP_001361183.1:p.Gln1113Ter
NM_033084.6:c.3337C>T (FANCD2)	NP_149075.2:p.Gln1113Ter
NM_173472.2:c.*44-5604G>A (FANCD2OS)	NP_775743.1:n.*44-5604G>A