Canonical Allele Identifier: CA389596787
Community Standard Title: NM_020937.4(FANCM):c.2255C>G (p.Ser752Ter)
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45173149C>G , CM000676.2:g.45173149C>G GRCh38
NC_000014.8:g.45642352C>G , CM000676.1:g.45642352C>G GRCh37
NC_000014.7:g.44712102C>G NCBI36
NG_007417.1:g.42217C>G , LRG_502:g.42217C>G

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.2255C>G MANE Select NP_065988.1:p.Ser752Ter
ENST00000267430.10:c.2255C>G MANE Select ENSP00000267430.5:p.Ser752Ter
NM_001308133.1:c.2177C>G NP_001295062.1:p.Ser726Ter
NM_001308133.2:c.2177C>G NP_001295062.1:p.Ser726Ter
NM_020937.2:c.2255C>G , LRG_502t1:c.2255C>G NP_065988.1:p.Ser752Ter
NM_020937.3:c.2255C>G NP_065988.1:p.Ser752Ter
ENST00000267430.9:c.2255C>G ENSP00000267430.5:p.Ser752Ter
ENST00000542564.6:c.2177C>G ENSP00000442493.2:p.Ser726Ter
ENST00000554809.6:c.467C>G ENSP00000450632.2:p.Ser156Ter
ENST00000556250.5:c.803C>G ENSP00000452033.1:p.Ser268Ter
ENST00000556250.6:c.2048C>G ENSP00000452033.2:p.Ser683Ter
ENST00000696641.1:c.2096C>G ENSP00000512774.1:p.Ser699Ter
ENST00000696642.1:c.*1066C>G ENSP00000512775.1:n.*1066C>G
ENST00000696646.1:c.*1066C>G ENSP00000512777.1:n.*1066C>G
ENST00000696647.1:c.2255C>G ENSP00000512778.1:p.Ser752Ter
ENST00000696648.1:c.*280C>G ENSP00000512779.1:n.*280C>G
ENST00000696649.1:c.2161-1922C>G ENSP00000512780.1:n.2161-1922C>G
ENST00000696650.1:n.2203C>G
ENST00000696658.1:n.2805C>G
ENST00000696659.1:c.253C>G
ENST00000696663.1:c.1072C>G
ENST00000696664.1:c.1072C>G
ENST00000696675.1:c.2255C>G ENSP00000512799.1:p.Ser752Ter
ENST00000696683.1:c.1072C>G
ENST00000696684.1:c.1072C>G
ENST00000696685.1:c.1072C>G
XM_011537034.1:c.2255C>G XP_011535336.1:p.Ser752Ter
XM_011537034.2:c.2255C>G XP_011535336.1:p.Ser752Ter
XM_011537035.1:c.2177C>G XP_011535337.1:p.Ser726Ter
XM_011537035.3:c.2177C>G XP_011535337.1:p.Ser726Ter
XM_011537036.1:c.2255C>G XP_011535338.1:p.Ser752Ter
XM_011537037.1:c.269C>G XP_011535339.1:p.Ser90Ter
XM_011537037.3:c.269C>G XP_011535339.1:p.Ser90Ter
XM_017021523.1:c.2255C>G XP_016877012.1:p.Ser752Ter
XM_017021524.2:c.1292C>G XP_016877013.1:p.Ser431Ter
XM_017021525.2:c.1070C>G XP_016877014.1:p.Ser357Ter
XM_017021526.2:c.1070C>G XP_016877015.1:p.Ser357Ter
XM_017021527.1:c.1070C>G XP_016877016.1:p.Ser357Ter
XR_001750470.1:n.2347C>G
XR_001750471.2:n.2347C>G
XR_001750472.1:n.2347C>G