Canonical Allele Identifier: CA2664391463
Gene: FANCD2 HGNC NCBI

Linked Data

gnomAD v4: 3-10064719-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10064719T>C , CM000665.2:g.10064719T>C GRCh38
NC_000003.11:g.10106403T>C , CM000665.1:g.10106403T>C GRCh37
NC_000003.10:g.10081403T>C NCBI36
NG_007311.1:g.43291T>C , LRG_306:g.43291T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000681997.1:n.1106-10T>C
ENST00000683263.1:n.1021-10T>C
ENST00000675286.1:c.2022-10T>C MANE Select ENSP00000502379.1:n.2022-10T>C
ENST00000676013.1:c.1911-10T>C ENSP00000501999.1:n.1911-10T>C
ENST00000287647.7:c.2022-10T>C ENSP00000287647.3:n.2022-10T>C
ENST00000383807.5:c.2022-10T>C ENSP00000373318.1:n.2022-10T>C
ENST00000419585.5:c.2022-10T>C ENSP00000398754.1:n.2022-10T>C
ENST00000421731.5:c.521-10T>C
ENST00000470757.5:n.76-10T>C
ENST00000480909.1:n.27T>C
NM_001018115.1:c.2022-10T>C , LRG_306t1:c.2022-10T>C NP_001018125.1:n.2022-10T>C
NM_033084.3:c.2022-10T>C , LRG_306t2:c.2022-10T>C NP_149075.2:n.2022-10T>C
XM_005264946.2:c.2022-10T>C XP_005265003.1:n.2022-10T>C
XM_005264947.2:c.27-10T>C XP_005265004.1:n.27-10T>C
XM_006713021.2:c.2022-10T>C XP_006713084.1:n.2022-10T>C
XM_006713023.2:c.2022-10T>C XP_006713086.1:n.2022-10T>C
XM_006713024.2:c.2022-10T>C XP_006713087.1:n.2022-10T>C
XM_011533479.1:c.2022-10T>C XP_011531781.1:n.2022-10T>C
XM_011533480.1:c.873-10T>C XP_011531782.1:n.873-10T>C
XR_940391.1:n.2142-10T>C
NM_001018115.2:c.2022-10T>C NP_001018125.1:n.2022-10T>C
NM_001319984.1:c.2022-10T>C NP_001306913.1:n.2022-10T>C
NM_033084.4:c.2022-10T>C NP_149075.2:n.2022-10T>C
NM_001018115.3:c.2022-10T>C MANE Select NP_001018125.1:n.2022-10T>C
NM_001319984.2:c.2022-10T>C NP_001306913.1:n.2022-10T>C
NM_001374253.1:c.1911-10T>C NP_001361182.1:n.1911-10T>C
NM_001374254.1:c.2022-10T>C NP_001361183.1:n.2022-10T>C
NM_033084.6:c.2022-10T>C NP_149075.2:n.2022-10T>C