Canonical Allele Identifier: CA351738171

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10067270T>A , CM000665.2:g.10067270T>A	GRCh38
NC_000003.11:g.10108954T>A , CM000665.1:g.10108954T>A	GRCh37
NC_000003.10:g.10083954T>A	NCBI36
NG_007311.1:g.45842T>A , LRG_306:g.45842T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.2447T>A MANE Select	NP_001018125.1:p.Leu816Ter
ENST00000675286.1:c.2447T>A MANE Select	ENSP00000502379.1:p.Leu816Ter
NM_001018115.1:c.2447T>A , LRG_306t1:c.2447T>A	NP_001018125.1:p.Leu816Ter
NM_001018115.2:c.2447T>A	NP_001018125.1:p.Leu816Ter
NM_001319984.1:c.2447T>A	NP_001306913.1:p.Leu816Ter
NM_001319984.2:c.2447T>A	NP_001306913.1:p.Leu816Ter
NM_001374253.1:c.2336T>A	NP_001361182.1:p.Leu779Ter
NM_001374254.1:c.2447T>A	NP_001361183.1:p.Leu816Ter
NM_033084.3:c.2447T>A , LRG_306t2:c.2447T>A	NP_149075.2:p.Leu816Ter
NM_033084.4:c.2447T>A	NP_149075.2:p.Leu816Ter
NM_033084.6:c.2447T>A	NP_149075.2:p.Leu816Ter
ENST00000287647.7:c.2447T>A	ENSP00000287647.3:p.Leu816Ter
ENST00000383807.5:c.2447T>A	ENSP00000373318.1:p.Leu816Ter
ENST00000419585.5:c.2447T>A	ENSP00000398754.1:p.Leu816Ter
ENST00000421731.5:c.946T>A
ENST00000470757.5:n.439+1291T>A
ENST00000480909.1:n.462T>A
ENST00000676013.1:c.2336T>A	ENSP00000501999.1:p.Leu779Ter
ENST00000681997.1:n.1531T>A
ENST00000683263.1:n.1446T>A
XM_005264946.2:c.2447T>A	XP_005265003.1:p.Leu816Ter
XM_005264947.2:c.452T>A	XP_005265004.1:p.Leu151Ter
XM_006713021.2:c.2447T>A	XP_006713084.1:p.Leu816Ter
XM_006713023.2:c.2447T>A	XP_006713086.1:p.Leu816Ter
XM_006713024.2:c.2447T>A	XP_006713087.1:p.Leu816Ter
XM_011533479.1:c.2447T>A	XP_011531781.1:p.Leu816Ter
XM_011533480.1:c.1298T>A	XP_011531782.1:p.Leu433Ter
XR_940391.1:n.2505+1291T>A