Canonical Allele Identifier: CA389596921
Community Standard Title: NM_020937.4(FANCM):c.2316+2T>A
Gene: FANCM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45173212T>A , CM000676.2:g.45173212T>A GRCh38
NC_000014.8:g.45642415T>A , CM000676.1:g.45642415T>A GRCh37
NC_000014.7:g.44712165T>A NCBI36
NG_007417.1:g.42280T>A , LRG_502:g.42280T>A

Transcript Alleles

HGVS Amino-acid Change
NM_020937.4:c.2316+2T>A MANE Select NP_065988.1:n.2316+2T>A
ENST00000267430.10:c.2316+2T>A MANE Select ENSP00000267430.5:n.2316+2T>A
NM_001308133.1:c.2238+2T>A NP_001295062.1:n.2238+2T>A
NM_001308133.2:c.2238+2T>A NP_001295062.1:n.2238+2T>A
NM_020937.2:c.2316+2T>A , LRG_502t1:c.2316+2T>A NP_065988.1:n.2316+2T>A
NM_020937.3:c.2316+2T>A NP_065988.1:n.2316+2T>A
ENST00000267430.9:c.2316+2T>A ENSP00000267430.5:n.2316+2T>A
ENST00000542564.6:c.2238+2T>A ENSP00000442493.2:n.2238+2T>A
ENST00000554809.6:c.528+2T>A ENSP00000450632.2:n.528+2T>A
ENST00000556250.5:c.864+2T>A ENSP00000452033.1:n.864+2T>A
ENST00000556250.6:c.2109+2T>A ENSP00000452033.2:n.2109+2T>A
ENST00000696641.1:c.2157+2T>A ENSP00000512774.1:n.2157+2T>A
ENST00000696642.1:c.*1127+2T>A ENSP00000512775.1:n.*1127+2T>A
ENST00000696646.1:c.*1127+2T>A ENSP00000512777.1:n.*1127+2T>A
ENST00000696647.1:c.2316+2T>A ENSP00000512778.1:n.2316+2T>A
ENST00000696648.1:c.*341+2T>A ENSP00000512779.1:n.*341+2T>A
ENST00000696649.1:c.2161-1859T>A ENSP00000512780.1:n.2161-1859T>A
ENST00000696650.1:n.2264+2T>A
ENST00000696658.1:n.2866+2T>A
ENST00000696659.1:c.314+2T>A
ENST00000696663.1:c.1133+2T>A
ENST00000696664.1:c.1133+2T>A
ENST00000696675.1:c.2316+2T>A ENSP00000512799.1:n.2316+2T>A
ENST00000696683.1:c.1133+2T>A
ENST00000696684.1:c.1133+2T>A
ENST00000696685.1:c.1133+2T>A
XM_011537034.1:c.2316+2T>A XP_011535336.1:n.2316+2T>A
XM_011537034.2:c.2316+2T>A XP_011535336.1:n.2316+2T>A
XM_011537035.1:c.2238+2T>A XP_011535337.1:n.2238+2T>A
XM_011537035.3:c.2238+2T>A XP_011535337.1:n.2238+2T>A
XM_011537036.1:c.2316+2T>A XP_011535338.1:n.2316+2T>A
XM_011537037.1:c.330+2T>A XP_011535339.1:n.330+2T>A
XM_011537037.3:c.330+2T>A XP_011535339.1:n.330+2T>A
XM_017021523.1:c.2316+2T>A XP_016877012.1:n.2316+2T>A
XM_017021524.2:c.1353+2T>A XP_016877013.1:n.1353+2T>A
XM_017021525.2:c.1131+2T>A XP_016877014.1:n.1131+2T>A
XM_017021526.2:c.1131+2T>A XP_016877015.1:n.1131+2T>A
XM_017021527.1:c.1131+2T>A XP_016877016.1:n.1131+2T>A
XR_001750470.1:n.2408+2T>A
XR_001750471.2:n.2408+2T>A
XR_001750472.1:n.2408+2T>A