Canonical Allele Identifier: CA2249502

Gene: FANCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10043848C>T , CM000665.2:g.10043848C>T	GRCh38
NC_000003.11:g.10085532C>T , CM000665.1:g.10085532C>T	GRCh37
NC_000003.10:g.10060532C>T	NCBI36
NG_007311.1:g.22420C>T , LRG_306:g.22420C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001018115.3:c.1118C>T MANE Select	NP_001018125.1:p.Ser373Leu
ENST00000675286.1:c.1118C>T MANE Select	ENSP00000502379.1:p.Ser373Leu
NM_001018115.1:c.1118C>T , LRG_306t1:c.1118C>T	NP_001018125.1:p.Ser373Leu
NM_001018115.2:c.1118C>T	NP_001018125.1:p.Ser373Leu
NM_001319984.1:c.1118C>T	NP_001306913.1:p.Ser373Leu
NM_001319984.2:c.1118C>T	NP_001306913.1:p.Ser373Leu
NM_001374253.1:c.1118C>T	NP_001361182.1:p.Ser373Leu
NM_001374254.1:c.1118C>T	NP_001361183.1:p.Ser373Leu
NM_033084.3:c.1118C>T , LRG_306t2:c.1118C>T	NP_149075.2:p.Ser373Leu
NM_033084.4:c.1118C>T	NP_149075.2:p.Ser373Leu
NM_033084.6:c.1118C>T	NP_149075.2:p.Ser373Leu
ENST00000287647.7:c.1118C>T	ENSP00000287647.3:p.Ser373Leu
ENST00000383807.5:c.1118C>T	ENSP00000373318.1:p.Ser373Leu
ENST00000419585.5:c.1118C>T	ENSP00000398754.1:p.Ser373Leu
ENST00000676013.1:c.1118C>T	ENSP00000501999.1:p.Ser373Leu
ENST00000682647.1:c.*1038C>T	ENSP00000506736.1:n.*1038C>T
XM_005264946.2:c.1118C>T	XP_005265003.1:p.Ser373Leu
XM_006713021.2:c.1118C>T	XP_006713084.1:p.Ser373Leu
XM_006713023.2:c.1118C>T	XP_006713086.1:p.Ser373Leu
XM_006713024.2:c.1118C>T	XP_006713087.1:p.Ser373Leu
XM_011533479.1:c.1118C>T	XP_011531781.1:p.Ser373Leu
XR_940391.1:n.1238C>T