All transcript variants in gene ACVR2B

Information The variants shown are described using the NM_001106.3 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.100G>A r.(?) p.(Ala34Thr) g.38518825G>A Copied from the Exome Variant Server ACVR2B_000001 1/13006 1/8600 0/4406
?/? c.119G>A r.(?) p.(Arg40His) g.38518844G>A Copied from the Exome Variant Server ACVR2B_000002 62/13006 2/8600 60/4406
?/? c.148G>A r.(?) p.(Glu50Lys) g.38518873G>A Copied from the Exome Variant Server ACVR2B_000003 2/13006 2/8600 0/4406
?/? c.159G>A r.(=) p.(=) g.38518884G>A Copied from the Exome Variant Server ACVR2B_000004 1/13006 1/8600 0/4406
?/? c.164A>T r.(?) p.(Lys55Met) g.38518889A>T Copied from the Exome Variant Server ACVR2B_000005 1/13006 0/8600 1/4406
?/? c.167G>A r.(?) p.(Arg56Gln) g.38518892G>A Copied from the Exome Variant Server ACVR2B_000006 1/13006 1/8600 0/4406
?/? c.210C>T r.(=) p.(=) g.38518935C>T Copied from the Exome Variant Server ACVR2B_000007 4/13006 2/8600 2/4406
?/? c.248A>G r.(?) p.(Asn83Ser) g.38518973A>G Copied from the Exome Variant Server ACVR2B_000008 1/13006 0/8600 1/4406
?/? c.260+43G>A r.(=) p.(=) g.38519028G>A Copied from the Exome Variant Server ACVR2B_000009 1/13002 1/8600 0/4402
?/? c.261-31G>A r.(=) p.(=) g.38519321G>A Copied from the Exome Variant Server ACVR2B_000010 1/13006 1/8600 0/4406
?/? c.333A>G r.(=) p.(=) g.38519424A>G Copied from the Exome Variant Server ACVR2B_000011 6799/13006 5275/8600 1524/4406
?/? c.370+14G>A r.(=) p.(=) g.38519475G>A Copied from the Exome Variant Server ACVR2B_000012 8/13004 0/8600 8/4404
?/? c.370+20G>T r.(=) p.(=) g.38519481G>T Copied from the Exome Variant Server ACVR2B_000013 2/13004 0/8600 2/4404
?/? c.370+49T>G r.(=) p.(=) g.38519510T>G Copied from the Exome Variant Server ACVR2B_000014 2/12988 2/8594 0/4394
?/? c.371-42G>C r.(=) p.(=) g.38519590G>C Copied from the Exome Variant Server ACVR2B_000015 2/13004 0/8598 2/4406
?/? c.371-34G>T r.(=) p.(=) g.38519598G>T Copied from the Exome Variant Server ACVR2B_000016 1/13002 0/8598 1/4404
?/? c.371-33A>T r.(=) p.(=) g.38519599A>T Copied from the Exome Variant Server ACVR2B_000017 1/13002 0/8598 1/4404
?/? c.371-9G>A r.(=) p.(=) g.38519623G>A Copied from the Exome Variant Server ACVR2B_000018 1/13006 1/8600 0/4406
?/? c.371-3C>T r.spl? p.? g.38519629C>T Copied from the Exome Variant Server ACVR2B_000019 2/13006 2/8600 0/4406
?/? c.378C>T r.(=) p.(=) g.38519639C>T Copied from the Exome Variant Server ACVR2B_000020 2/13006 2/8600 0/4406
?/? c.390G>A r.(=) p.(=) g.38519651G>A Copied from the Exome Variant Server ACVR2B_000021 1/13006 0/8600 1/4406
?/? c.393A>G r.(=) p.(=) g.38519654A>G Copied from the Exome Variant Server ACVR2B_000022 1/13006 1/8600 0/4406
?/? c.410C>T r.(?) p.(Thr137Met) g.38519671C>T Copied from the Exome Variant Server ACVR2B_000023 1/13006 0/8600 1/4406
?/? c.438C>A r.(=) p.(=) g.38519699C>A Copied from the Exome Variant Server ACVR2B_000024 1/13006 1/8600 0/4406
?/? c.481C>T r.(?) p.(Arg161Trp) g.38519742C>T Copied from the Exome Variant Server ACVR2B_000025 1/13006 1/8600 0/4406
?/? c.488G>C r.(?) p.(Arg163Pro) g.38519749G>C Copied from the Exome Variant Server ACVR2B_000026 1/13006 0/8600 1/4406
?/? c.522+35G>C r.(=) p.(=) g.38519818G>C Copied from the Exome Variant Server ACVR2B_000027 13/13006 0/8600 13/4406
?/? c.523G>A r.(?) p.(Asp175Asn) g.38519866G>A Copied from the Exome Variant Server ACVR2B_000028 1/13006 1/8600 0/4406
?/? c.525C>T r.(=) p.(=) g.38519868C>T Copied from the Exome Variant Server ACVR2B_000029 1/13006 0/8600 1/4406
?/? c.598C>T r.(?) p.(Arg200Cys) g.38519941C>T Copied from the Exome Variant Server ACVR2B_000030 1/13006 1/8600 0/4406
?/? c.661C>G r.(?) p.(Leu221Val) g.38520004C>G Copied from the Exome Variant Server ACVR2B_000031 1/13006 0/8600 1/4406
?/? c.666+3G>T r.spl? p.? g.38520012G>T Copied from the Exome Variant Server ACVR2B_000032 1/13006 1/8600 0/4406
?/? c.666+5G>A r.spl? p.? g.38520014G>A Copied from the Exome Variant Server ACVR2B_000033 105/13006 0/8600 105/4406
?/? c.666+30C>T r.(=) p.(=) g.38520039C>T Copied from the Exome Variant Server ACVR2B_000034 1/13006 0/8600 1/4406
?/? c.667-45C>T r.(=) p.(=) g.38520574C>T Copied from the Exome Variant Server ACVR2B_000035 1/13006 0/8600 1/4406
?/? c.667-10C>A r.(=) p.(=) g.38520609C>A Copied from the Exome Variant Server ACVR2B_000036 1/13006 1/8600 0/4406
?/? c.667-9C>T r.(=) p.(=) g.38520610C>T Copied from the Exome Variant Server ACVR2B_000037 3/13006 0/8600 3/4406
?/? c.678G>A r.(=) p.(=) g.38520630G>A Copied from the Exome Variant Server ACVR2B_000038 1/13006 0/8600 1/4406
?/? c.719A>G r.(?) p.(Lys240Arg) g.38520671A>G Copied from the Exome Variant Server ACVR2B_000039 1/13006 1/8600 0/4406
?/? c.723C>T r.(=) p.(=) g.38520675C>T Copied from the Exome Variant Server ACVR2B_000040 2/13006 1/8600 1/4406
?/? c.744T>C r.(=) p.(=) g.38520696T>C Copied from the Exome Variant Server ACVR2B_000041 3/13006 0/8600 3/4406
?/? c.750C>A r.(=) p.(=) g.38520702C>A Copied from the Exome Variant Server ACVR2B_000042 1/13006 1/8600 0/4406
?/? c.810+32A>G r.(=) p.(=) g.38520794A>G Copied from the Exome Variant Server ACVR2B_000043 1/13006 0/8600 1/4406
?/? c.811-42T>A r.(=) p.(=) g.38521127T>A Copied from the Exome Variant Server ACVR2B_000044 1/13006 0/8600 1/4406
?/? c.811-25C>T r.(=) p.(=) g.38521144C>T Copied from the Exome Variant Server ACVR2B_000045 1/13006 1/8600 0/4406
?/? c.811-13T>C r.(=) p.(=) g.38521156T>C Copied from the Exome Variant Server ACVR2B_000046 5742/13006 4897/8600 845/4406
?/? c.811-12G>A r.(=) p.(=) g.38521157G>A Copied from the Exome Variant Server ACVR2B_000047 38/13006 36/8600 2/4406
?/? c.811-3C>T r.spl? p.? g.38521166C>T Copied from the Exome Variant Server ACVR2B_000048 1/13006 1/8600 0/4406
?/? c.879G>A r.(=) p.(=) g.38521237G>A Copied from the Exome Variant Server ACVR2B_000049 1/13006 1/8600 0/4406
?/? c.887G>A r.(?) p.(Arg296Gln) g.38521245G>A Copied from the Exome Variant Server ACVR2B_000050 1/13006 1/8600 0/4406
?/? c.926G>A r.(?) p.(Arg309His) g.38521284G>A Copied from the Exome Variant Server ACVR2B_000051 1/13006 0/8600 1/4406
?/? c.930C>T r.(=) p.(=) g.38521288C>T Copied from the Exome Variant Server ACVR2B_000052 1/13006 0/8600 1/4406
?/? c.959+42G>A r.(=) p.(=) g.38521359G>A Copied from the Exome Variant Server ACVR2B_000053 10/13006 9/8600 1/4406
?/? c.960-42A>T r.(=) p.(=) g.38522800A>T Copied from the Exome Variant Server ACVR2B_000054 1/13006 1/8600 0/4406
?/? c.960-19T>C r.(=) p.(=) g.38522823T>C Copied from the Exome Variant Server ACVR2B_000055 8/13006 6/8600 2/4406
?/? c.978T>C r.(=) p.(=) g.38522860T>C Copied from the Exome Variant Server ACVR2B_000056 1/13006 0/8600 1/4406
?/? c.993C>T r.(=) p.(=) g.38522875C>T Copied from the Exome Variant Server ACVR2B_000058 105/13006 0/8600 105/4406
?/? c.994G>C r.(?) p.(Asp332His) g.38522876G>C Copied from the Exome Variant Server ACVR2B_000060 1/13006 1/8600 0/4406
?/? c.1041G>A r.(=) p.(=) g.38522923G>A Copied from the Exome Variant Server ACVR2B_000062 1/13006 0/8600 1/4406
?/? c.1069G>A r.(?) p.(Gly357Arg) g.38522951G>A Copied from the Exome Variant Server ACVR2B_000064 1/13006 1/8600 0/4406
?/? c.1074+29G>A r.(=) p.(=) g.38522985G>A Copied from the Exome Variant Server ACVR2B_000066 1/13006 0/8600 1/4406
?/? c.1075-51T>C r.(=) p.(=) g.38523638T>C Copied from the Exome Variant Server ACVR2B_000068 1/13006 1/8600 0/4406
?/? c.1075-46G>A r.(=) p.(=) g.38523643G>A Copied from the Exome Variant Server ACVR2B_000070 1/13006 1/8600 0/4406
?/? c.1075-29A>G r.(=) p.(=) g.38523660A>G Copied from the Exome Variant Server ACVR2B_000057 8/13006 0/8600 8/4406
?/? c.1075-19C>T r.(=) p.(=) g.38523670C>T Copied from the Exome Variant Server ACVR2B_000059 1/13006 1/8600 0/4406
?/? c.1075-16C>T r.(=) p.(=) g.38523673C>T Copied from the Exome Variant Server ACVR2B_000061 1/13006 0/8600 1/4406
?/? c.1075-5C>T r.spl? p.? g.38523684C>T Copied from the Exome Variant Server ACVR2B_000063 100/13006 92/8600 8/4406
?/? c.1140C>T r.(=) p.(=) g.38523754C>T Copied from the Exome Variant Server ACVR2B_000065 10/13006 0/8600 10/4406
?/? c.1189G>C r.(?) p.(Val397Leu) g.38523803G>C Copied from the Exome Variant Server ACVR2B_000067 2/13006 2/8600 0/4406
?/? c.1191G>C r.(=) p.(=) g.38523805G>C Copied from the Exome Variant Server ACVR2B_000069 1/13006 0/8600 1/4406
?/? c.1209A>G r.(=) p.(=) g.38523823A>G Copied from the Exome Variant Server ACVR2B_000071 1/13006 0/8600 1/4406
?/? c.1218C>T r.(=) p.(=) g.38523925C>T Copied from the Exome Variant Server ACVR2B_000072 1/13006 1/8600 0/4406
?/? c.1226A>G r.(?) p.(Glu409Gly) g.38523933A>G Copied from the Exome Variant Server ACVR2B_000073 1/13006 0/8600 1/4406
?/? c.1254T>C r.(=) p.(=) g.38523961T>C Copied from the Exome Variant Server ACVR2B_000074 1/13006 1/8600 0/4406
?/? c.1269G>A r.(=) p.(=) g.38523976G>A Copied from the Exome Variant Server ACVR2B_000075 4/13006 4/8600 0/4406
?/? c.1287G>A r.(=) p.(=) g.38523994G>A Copied from the Exome Variant Server ACVR2B_000076 1/13006 0/8600 1/4406
?/? c.1342C>T r.(?) p.(Pro448Ser) g.38524049C>T Copied from the Exome Variant Server ACVR2B_000077 1/13006 1/8600 0/4406
?/? c.1344+7G>T r.(=) p.(=) g.38524058G>T Copied from the Exome Variant Server ACVR2B_000078 188/13006 6/8600 182/4406
?/? c.1344+31G>C r.(=) p.(=) g.38524082G>C Copied from the Exome Variant Server ACVR2B_000079 8/13006 1/8600 7/4406
?/? c.1344+35G>A r.(=) p.(=) g.38524086G>A Copied from the Exome Variant Server ACVR2B_000080 280/13006 1/8600 279/4406
?/? c.1345-37A>C r.(=) p.(=) g.38524592A>C Copied from the Exome Variant Server ACVR2B_000081 5/13006 5/8600 0/4406
?/? c.1345-18C>G r.(=) p.(=) g.38524611C>G Copied from the Exome Variant Server ACVR2B_000082 1/13006 1/8600 0/4406
?/? c.1345-15C>T r.(=) p.(=) g.38524614C>T Copied from the Exome Variant Server ACVR2B_000083 1/13006 1/8600 0/4406
?/? c.1371C>T r.(=) p.(=) g.38524655C>T Copied from the Exome Variant Server ACVR2B_000084 1/13006 0/8600 1/4406
?/? c.1410C>T r.(=) p.(=) g.38524694C>T Copied from the Exome Variant Server ACVR2B_000085 3/13006 2/8600 1/4406
?/? c.1413G>A r.(=) p.(=) g.38524697G>A Copied from the Exome Variant Server ACVR2B_000086 1/13006 0/8600 1/4406
?/? c.1438C>T r.(=) p.(=) g.38524722C>T Copied from the Exome Variant Server ACVR2B_000087 1/13006 1/8600 0/4406
?/? c.1444C>T r.(?) p.(Arg482Trp) g.38524728C>T Copied from the Exome Variant Server ACVR2B_000088 3/13006 3/8600 0/4406
?/? c.1458C>T r.(=) p.(=) g.38524742C>T Copied from the Exome Variant Server ACVR2B_000089 5704/13006 4895/8600 809/4406
?/? c.1469C>T r.(?) p.(Ser490Leu) g.38524753C>T Copied from the Exome Variant Server ACVR2B_000090 2/13006 0/8600 2/4406
?/? c.1470G>A r.(=) p.(=) g.38524754G>A Copied from the Exome Variant Server ACVR2B_000091 1/13006 0/8600 1/4406
?/? c.1477C>T r.(?) p.(Leu493Phe) g.38524761C>T Copied from the Exome Variant Server ACVR2B_000092 9/13006 9/8600 0/4406
?/? c.1508T>C r.(?) p.(Val503Ala) g.38524792T>C Copied from the Exome Variant Server ACVR2B_000093 1/13006 0/8600 1/4406
?/? c.1536C>T r.(=) p.(=) g.38524820C>T Copied from the Exome Variant Server ACVR2B_000094 1/13006 1/8600 0/4406
?/? c.*10A>G r.(=) p.(=) g.38524833A>G Copied from the Exome Variant Server ACVR2B_000095 1/13006 0/8600 1/4406
?/? c.*12G>A r.(=) p.(=) g.38524835G>A Copied from the Exome Variant Server ACVR2B_000096 1/13006 1/8600 0/4406
?/? c.*14G>A r.(=) p.(=) g.38524837G>A Copied from the Exome Variant Server ACVR2B_000097 1/13006 1/8600 0/4406
?/? c.*15T>C r.(=) p.(=) g.38524838T>C Copied from the Exome Variant Server ACVR2B_000098 25/13006 24/8600 1/4406
?/? c.*43del r.(=) p.(=) g.38524866del Copied from the Exome Variant Server ACVR2B_000099 82/12520 8/8254 74/4266
Legend