Canonical Allele Identifier: CA432535776
Gene: FANCD2 HGNC NCBI
FANCD2OS HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.10140577T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10098893T>C , CM000665.2:g.10098893T>C GRCh38
NC_000003.11:g.10140577T>C , CM000665.1:g.10140577T>C GRCh37
NC_000003.10:g.10115577T>C NCBI36
NG_007311.1:g.77465T>C , LRG_306:g.77465T>C
NG_042053.1:g.14339A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681997.1:n.3443T>C (FANCD2)
ENST00000683263.1:n.3358T>C (FANCD2)
ENST00000683312.1:n.3910T>C (FANCD2)
ENST00000675286.1:c.4281+78T>C (FANCD2) MANE Select ENSP00000502379.1:n.4281+78T>C
ENST00000676013.1:c.4170+78T>C (FANCD2) ENSP00000501999.1:n.4170+78T>C
ENST00000287647.7:c.4359T>C (FANCD2) ENSP00000287647.3:p.Thr1453=
ENST00000383807.5:c.4281+78T>C (FANCD2) ENSP00000373318.1:n.4281+78T>C
ENST00000419585.5:c.4281+78T>C (FANCD2) ENSP00000398754.1:n.4281+78T>C
ENST00000421731.5:c.2686+78T>C (FANCD2)
ENST00000431315.5:n.71-4003A>G (FANCD2OS)
ENST00000470028.1:n.354+78T>C (FANCD2)
ENST00000524279.1:c.*43+5305A>G (FANCD2OS) ENSP00000429663.1:n.*43+5305A>G
NM_001018115.1:c.4281+78T>C , LRG_306t1:c.4281+78T>C (FANCD2) NP_001018125.1:n.4281+78T>C
NM_033084.3:c.4359T>C , LRG_306t2:c.4359T>C (FANCD2) NP_149075.2:p.Thr1453=
NM_173472.1:c.*43+5305A>G (FANCD2OS) NP_775743.1:n.*43+5305A>G
XM_005264946.2:c.4281+78T>C (FANCD2) XP_005265003.1:n.4281+78T>C
XM_005264947.2:c.2364T>C (FANCD2) XP_005265004.1:p.Thr788=
XM_006713021.2:c.4359T>C (FANCD2) XP_006713084.1:p.Thr1453=
XM_006713023.2:c.4320T>C (FANCD2) XP_006713086.1:p.Thr1440=
XM_006713024.2:c.4242T>C (FANCD2) XP_006713087.1:p.Thr1414=
XM_011533480.1:c.3210T>C (FANCD2) XP_011531782.1:p.Thr1070=
NM_001018115.2:c.4281+78T>C (FANCD2) NP_001018125.1:n.4281+78T>C
NM_001319984.1:c.4281+78T>C (FANCD2) NP_001306913.1:n.4281+78T>C
NM_033084.4:c.4359T>C (FANCD2) NP_149075.2:p.Thr1453=
NM_001018115.3:c.4281+78T>C (FANCD2) MANE Select NP_001018125.1:n.4281+78T>C
NM_001319984.2:c.4281+78T>C (FANCD2) NP_001306913.1:n.4281+78T>C
NM_001374253.1:c.4170+78T>C (FANCD2) NP_001361182.1:n.4170+78T>C
NM_001374254.1:c.4320T>C (FANCD2) NP_001361183.1:p.Thr1440=
NM_033084.6:c.4359T>C (FANCD2) NP_149075.2:p.Thr1453=
NM_173472.2:c.*43+5305A>G (FANCD2OS) NP_775743.1:n.*43+5305A>G