Canonical Allele Identifier: CA2249998

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10065405C>T , CM000665.2:g.10065405C>T	GRCh38
NC_000003.11:g.10107089C>T , CM000665.1:g.10107089C>T	GRCh37
NC_000003.10:g.10082089C>T	NCBI36
NG_007311.1:g.43977C>T , LRG_306:g.43977C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.2180C>T MANE Select	NP_001018125.1:p.Pro727Leu
ENST00000675286.1:c.2180C>T MANE Select	ENSP00000502379.1:p.Pro727Leu
NM_001018115.1:c.2180C>T , LRG_306t1:c.2180C>T	NP_001018125.1:p.Pro727Leu
NM_001018115.2:c.2180C>T	NP_001018125.1:p.Pro727Leu
NM_001319984.1:c.2180C>T	NP_001306913.1:p.Pro727Leu
NM_001319984.2:c.2180C>T	NP_001306913.1:p.Pro727Leu
NM_001374253.1:c.2069C>T	NP_001361182.1:p.Pro690Leu
NM_001374254.1:c.2180C>T	NP_001361183.1:p.Pro727Leu
NM_033084.3:c.2180C>T , LRG_306t2:c.2180C>T	NP_149075.2:p.Pro727Leu
NM_033084.4:c.2180C>T	NP_149075.2:p.Pro727Leu
NM_033084.6:c.2180C>T	NP_149075.2:p.Pro727Leu
ENST00000287647.7:c.2180C>T	ENSP00000287647.3:p.Pro727Leu
ENST00000383807.5:c.2180C>T	ENSP00000373318.1:p.Pro727Leu
ENST00000419585.5:c.2180C>T	ENSP00000398754.1:p.Pro727Leu
ENST00000421731.5:c.679C>T
ENST00000470757.5:n.234C>T
ENST00000480909.1:n.195C>T
ENST00000676013.1:c.2069C>T	ENSP00000501999.1:p.Pro690Leu
ENST00000681997.1:n.1264C>T
ENST00000683263.1:n.1179C>T
XM_005264946.2:c.2180C>T	XP_005265003.1:p.Pro727Leu
XM_005264947.2:c.185C>T	XP_005265004.1:p.Pro62Leu
XM_006713021.2:c.2180C>T	XP_006713084.1:p.Pro727Leu
XM_006713023.2:c.2180C>T	XP_006713086.1:p.Pro727Leu
XM_006713024.2:c.2180C>T	XP_006713087.1:p.Pro727Leu
XM_011533479.1:c.2180C>T	XP_011531781.1:p.Pro727Leu
XM_011533480.1:c.1031C>T	XP_011531782.1:p.Pro344Leu
XR_940391.1:n.2300C>T