Canonical Allele Identifier: CA15784683
Gene: MBNL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.97364162G>A , CM000675.2:g.97364162G>A GRCh38
NC_000013.10:g.98016416G>A , CM000675.1:g.98016416G>A GRCh37
NC_000013.9:g.96814417G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000704364.1:c.1013-974G>A ENSP00000515872.1:n.1013-974G>A
ENST00000704373.1:c.1012+6527G>A ENSP00000515878.1:n.1012+6527G>A
ENST00000343600.9:c.958+6527G>A ENSP00000344214.4:n.958+6527G>A
ENST00000376673.8:c.959-974G>A ENSP00000365861.3:n.959-974G>A
ENST00000679496.1:c.1013-974G>A MANE Select ENSP00000505596.1:n.1013-974G>A
ENST00000343600.8:c.958+6527G>A ENSP00000344214.4:n.958+6527G>A
ENST00000345429.10:c.959-974G>A ENSP00000267287.7:n.959-974G>A
ENST00000376673.7:c.959-974G>A ENSP00000365861.3:n.959-974G>A
ENST00000397601.5:c.958+6527G>A ENSP00000380726.1:n.958+6527G>A
ENST00000449284.1:c.209-2297G>A ENSP00000404202.1:n.209-2297G>A
ENST00000469707.5:c.*208-974G>A ENSP00000432422.1:n.*208-974G>A
NM_001306070.1:c.959-974G>A NP_001292999.1:n.959-974G>A
NM_144778.3:c.959-974G>A NP_659002.1:n.959-974G>A
NM_207304.2:c.958+6527G>A NP_997187.1:n.958+6527G>A
XM_005254018.1:c.1013-974G>A XP_005254075.1:n.1013-974G>A
XM_005254019.1:c.1012+6527G>A XP_005254076.1:n.1012+6527G>A
XM_005254021.1:c.1013-2297G>A XP_005254078.1:n.1013-2297G>A
XM_005254022.1:c.959-2297G>A XP_005254079.1:n.959-2297G>A
XM_006719912.1:c.1013-974G>A XP_006719975.1:n.1013-974G>A
XM_011521045.1:c.1013-974G>A XP_011519347.1:n.1013-974G>A
XM_005254018.3:c.1013-974G>A XP_005254075.1:n.1013-974G>A
XM_005254019.3:c.1012+6527G>A XP_005254076.1:n.1012+6527G>A
XM_005254021.3:c.1013-2297G>A XP_005254078.1:n.1013-2297G>A
XM_005254022.3:c.959-2297G>A XP_005254079.1:n.959-2297G>A
XM_006719912.3:c.1013-974G>A XP_006719975.1:n.1013-974G>A
XM_024449300.1:c.884-974G>A XP_024305068.1:n.884-974G>A
XM_024449301.1:c.829+6527G>A XP_024305069.1:n.829+6527G>A
NM_144778.4:c.959-974G>A NP_659002.1:n.959-974G>A
NM_001306070.2:c.959-974G>A NP_001292999.1:n.959-974G>A
NM_001382649.1:c.959-974G>A NP_001369578.1:n.959-974G>A
NM_001382650.1:c.959-974G>A NP_001369579.1:n.959-974G>A
NM_001382651.1:c.958+6527G>A NP_001369580.1:n.958+6527G>A
NM_001382652.1:c.958+6527G>A NP_001369581.1:n.958+6527G>A
NM_001382653.1:c.958+6527G>A NP_001369582.1:n.958+6527G>A
NM_001382654.1:c.958+6527G>A NP_001369583.1:n.958+6527G>A
NM_001382656.1:c.958+6527G>A NP_001369585.1:n.958+6527G>A
NM_001382660.1:c.958+6527G>A NP_001369589.1:n.958+6527G>A
NM_001382661.1:c.958+6527G>A NP_001369590.1:n.958+6527G>A
NM_001382663.1:c.958+6527G>A NP_001369592.1:n.958+6527G>A
NM_001382666.1:c.959-974G>A NP_001369595.1:n.959-974G>A
NM_001382667.1:c.959-974G>A NP_001369596.1:n.959-974G>A
NM_001382668.1:c.959-974G>A NP_001369597.1:n.959-974G>A
NM_001382669.1:c.1013-974G>A NP_001369598.1:n.1013-974G>A
NM_001382670.1:c.1013-974G>A NP_001369599.1:n.1013-974G>A
NM_001382671.1:c.1012+6527G>A NP_001369600.1:n.1012+6527G>A
NM_001382672.1:c.1012+6527G>A NP_001369601.1:n.1012+6527G>A
NM_001382673.1:c.1012+6527G>A NP_001369602.1:n.1012+6527G>A
NM_001382674.1:c.959-2297G>A NP_001369603.1:n.959-2297G>A
NM_001382675.1:c.959-2297G>A NP_001369604.1:n.959-2297G>A
NM_001382676.1:c.959-2297G>A NP_001369605.1:n.959-2297G>A
NM_001382677.1:c.694+6527G>A NP_001369606.1:n.694+6527G>A
NM_001382678.1:c.694+6527G>A NP_001369607.1:n.694+6527G>A
NM_001382679.1:c.694+6527G>A NP_001369608.1:n.694+6527G>A
NM_001382680.1:c.694+6527G>A NP_001369609.1:n.694+6527G>A
NM_001382681.1:c.804+17095G>A NP_001369610.1:n.804+17095G>A
NM_001382682.1:c.674-974G>A NP_001369611.1:n.674-974G>A
NM_001382683.1:c.1013-974G>A MANE Select NP_001369612.1:n.1013-974G>A
NM_001382684.1:c.1007-974G>A NP_001369613.1:n.1007-974G>A
NM_001382685.1:c.1013-2297G>A NP_001369614.1:n.1013-2297G>A
NM_001382686.1:c.958+6527G>A NP_001369615.1:n.958+6527G>A
NM_001382687.1:c.959-2313G>A NP_001369616.1:n.959-2313G>A
NM_001382688.1:c.854-974G>A NP_001369617.1:n.854-974G>A
NM_001382689.1:c.830-974G>A NP_001369618.1:n.830-974G>A
NM_001382690.1:c.830-974G>A NP_001369619.1:n.830-974G>A
NM_001382691.1:c.829+6527G>A NP_001369620.1:n.829+6527G>A
NM_001382692.1:c.830-2297G>A NP_001369621.1:n.830-2297G>A
NM_001382693.1:c.793+6527G>A NP_001369622.1:n.793+6527G>A
NM_001382694.1:c.749-974G>A NP_001369623.1:n.749-974G>A
NM_001382695.1:c.748+6527G>A NP_001369624.1:n.748+6527G>A
NM_001382696.1:c.673+6527G>A NP_001369625.1:n.673+6527G>A
NM_001382697.1:c.529+6527G>A NP_001369626.1:n.529+6527G>A
NM_207304.3:c.958+6527G>A NP_997187.1:n.958+6527G>A
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