Canonical Allele Identifier: CA2249110

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10032889T>C , CM000665.2:g.10032889T>C	GRCh38
NC_000003.11:g.10074573T>C , CM000665.1:g.10074573T>C	GRCh37
NC_000003.10:g.10049573T>C	NCBI36
NG_007311.1:g.11461T>C , LRG_306:g.11461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682647.1:c.*130T>C	ENSP00000506736.1:n.*130T>C
ENST00000675286.1:c.122T>C MANE Select	ENSP00000502379.1:p.Val41Ala
ENST00000676013.1:c.122T>C	ENSP00000501999.1:p.Val41Ala
ENST00000287647.7:c.122T>C	ENSP00000287647.3:p.Val41Ala
ENST00000383807.5:c.122T>C	ENSP00000373318.1:p.Val41Ala
ENST00000419585.5:c.122T>C	ENSP00000398754.1:p.Val41Ala
ENST00000431693.1:c.122T>C	ENSP00000399354.1:p.Val41Ala
ENST00000435522.5:c.*130T>C	ENSP00000402166.1:n.*130T>C
NM_001018115.1:c.122T>C , LRG_306t1:c.122T>C	NP_001018125.1:p.Val41Ala
NM_033084.3:c.122T>C , LRG_306t2:c.122T>C	NP_149075.2:p.Val41Ala
XM_005264946.2:c.122T>C	XP_005265003.1:p.Val41Ala
XM_006713021.2:c.122T>C	XP_006713084.1:p.Val41Ala
XM_006713023.2:c.122T>C	XP_006713086.1:p.Val41Ala
XM_006713024.2:c.122T>C	XP_006713087.1:p.Val41Ala
XM_011533479.1:c.122T>C	XP_011531781.1:p.Val41Ala
XR_940391.1:n.242T>C
NM_001018115.2:c.122T>C	NP_001018125.1:p.Val41Ala
NM_001319984.1:c.122T>C	NP_001306913.1:p.Val41Ala
NM_033084.4:c.122T>C	NP_149075.2:p.Val41Ala
NM_001018115.3:c.122T>C MANE Select	NP_001018125.1:p.Val41Ala
NM_001319984.2:c.122T>C	NP_001306913.1:p.Val41Ala
NM_001374253.1:c.122T>C	NP_001361182.1:p.Val41Ala
NM_001374254.1:c.122T>C	NP_001361183.1:p.Val41Ala
NM_001374255.1:c.122T>C	NP_001361184.1:p.Val41Ala
NM_033084.6:c.122T>C	NP_149075.2:p.Val41Ala