Linked Data
ClinVar Variation Id:
354574
ClinVar RCV Id:
RCV000348923
dbSNP Id:
rs3841444
gnomAD v2:
5-88016153-A-AT
gnomAD v3:
5-88720336-A-AT
gnomAD v4:
5-88720336-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.88720348dup , CM000667.2:g.88720348dup | GRCh38 |
| NC_000005.9:g.88016165dup , CM000667.1:g.88016165dup | GRCh37 |
| NC_000005.8:g.88051921dup | NCBI36 |
| NG_023427.1:g.188769dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707127.1:c.*2267dup (MEF2C) | ENSP00000516755.1:n.*2267dup | |
| ENST00000504921.7:c.*2267dup (MEF2C) MANE Select | ENSP00000421925.5:n.*2267dup | |
| ENST00000636998.1:c.*2267dup (MEF2C) | ENSP00000490630.1:n.*2267dup | |
| ENST00000637481.1:c.*2267dup (MEF2C) | ENSP00000490354.1:n.*2267dup | |
| ENST00000340208.9:c.*2267dup (MEF2C) | ENSP00000340874.5:n.*2267dup | |
| ENST00000424173.6:c.*2267dup (MEF2C) | ENSP00000389610.2:n.*2267dup | |
| ENST00000504921.6:c.*2267dup (MEF2C) | ENSP00000421925.4:n.*2267dup | |
| ENST00000625674.2:c.*2267dup (MEF2C) | ENSP00000487430.1:n.*2267dup | |
| NM_001131005.2:c.*2267dup (MEF2C) | NP_001124477.1:n.*2267dup | |
| NM_001193347.1:c.*2267dup (MEF2C) | NP_001180276.1:n.*2267dup | |
| NM_001193348.1:c.*2267dup (MEF2C) | NP_001180277.1:n.*2267dup | |
| NM_001193349.1:c.*2267dup (MEF2C) | NP_001180278.1:n.*2267dup | |
| NM_001193350.1:c.*2267dup (MEF2C) | NP_001180279.1:n.*2267dup | |
| NM_001308002.1:c.*2267dup (MEF2C) | NP_001294931.1:n.*2267dup | |
| NM_002397.4:c.*2267dup (MEF2C) | NP_002388.2:n.*2267dup | |
| XM_005248511.1:c.*2267dup (MEF2C) | XP_005248568.1:n.*2267dup | |
| XM_006714618.1:c.*2267dup (MEF2C) | XP_006714681.1:n.*2267dup | |
| XM_006714619.1:c.*2267dup (MEF2C) | XP_006714682.1:n.*2267dup | |
| XM_006714625.2:c.*2267dup (MEF2C) | XP_006714688.1:n.*2267dup | |
| XM_011543396.1:c.*2267dup (MEF2C) | XP_011541698.1:n.*2267dup | |
| XM_011543397.1:c.*2267dup (MEF2C) | XP_011541699.1:n.*2267dup | |
| XM_011543399.1:c.*2267dup (MEF2C) | XP_011541701.1:n.*2267dup | |
| XM_011543400.1:c.*2267dup (MEF2C) | XP_011541702.1:n.*2267dup | |
| XM_011543401.1:c.*2267dup (MEF2C) | XP_011541703.1:n.*2267dup | |
| XM_011543402.1:c.*2267dup (MEF2C) | XP_011541704.1:n.*2267dup | |
| XM_011543403.1:c.*2267dup (MEF2C) | XP_011541705.1:n.*2267dup | |
| XM_011543404.1:c.*2267dup (MEF2C) | XP_011541706.1:n.*2267dup | |
| XM_011543405.1:c.*2267dup (MEF2C) | XP_011541707.1:n.*2267dup | |
| NM_001193349.2:c.*2267dup (MEF2C) | NP_001180278.1:n.*2267dup | |
| NM_001308002.2:c.*2267dup (MEF2C) | NP_001294931.1:n.*2267dup | |
| NM_001363581.1:c.*2267dup (MEF2C) | NP_001350510.1:n.*2267dup | |
| NM_001364329.1:c.*2267dup (MEF2C) | NP_001351258.1:n.*2267dup | |
| NM_001364330.1:c.*2267dup (MEF2C) | NP_001351259.1:n.*2267dup | |
| NM_001364331.1:c.*2267dup (MEF2C) | NP_001351260.1:n.*2267dup | |
| NM_001364332.1:c.*2267dup (MEF2C) | NP_001351261.1:n.*2267dup | |
| NM_001364333.1:c.*2267dup (MEF2C) | NP_001351262.1:n.*2267dup | |
| NM_001364334.1:c.*2267dup (MEF2C) | NP_001351263.1:n.*2267dup | |
| NM_001364335.1:c.*2267dup (MEF2C) | NP_001351264.1:n.*2267dup | |
| NM_001364336.1:c.*2267dup (MEF2C) | NP_001351265.1:n.*2267dup | |
| NM_001364337.1:c.*2267dup (MEF2C) | NP_001351266.1:n.*2267dup | |
| NM_001364338.1:c.*2267dup (MEF2C) | NP_001351267.1:n.*2267dup | |
| NM_001364339.1:c.*2267dup (MEF2C) | NP_001351268.1:n.*2267dup | |
| NM_001364340.1:c.*2267dup (MEF2C) | NP_001351269.1:n.*2267dup | |
| NM_001364341.1:c.*2267dup (MEF2C) | NP_001351270.1:n.*2267dup | |
| NM_001364342.1:c.*2267dup (MEF2C) | NP_001351271.1:n.*2267dup | |
| NM_001364343.1:c.*2267dup (MEF2C) | NP_001351272.1:n.*2267dup | |
| NM_001364344.1:c.*2267dup (MEF2C) | NP_001351273.1:n.*2267dup | |
| NM_001364345.1:c.*2424dup (MEF2C) | NP_001351274.1:n.*2424dup | |
| NM_001364346.1:c.*2424dup (MEF2C) | NP_001351275.1:n.*2424dup | |
| NM_001364347.1:c.*2424dup (MEF2C) | NP_001351276.1:n.*2424dup | |
| NM_001364348.1:c.*2424dup (MEF2C) | NP_001351277.1:n.*2424dup | |
| NM_001364349.1:c.*2424dup (MEF2C) | NP_001351278.1:n.*2424dup | |
| NM_001364350.1:c.*2424dup (MEF2C) | NP_001351279.1:n.*2424dup | |
| NM_001364352.1:c.*2424dup (MEF2C) | NP_001351281.1:n.*2424dup | |
| NM_001364353.1:c.*2267dup (MEF2C) | NP_001351282.1:n.*2267dup | |
| NM_001364354.1:c.*2424dup (MEF2C) | NP_001351283.1:n.*2424dup | |
| NM_001364355.1:c.*2424dup (MEF2C) | NP_001351284.1:n.*2424dup | |
| NM_001364356.1:c.*2267dup (MEF2C) | NP_001351285.1:n.*2267dup | |
| NM_001364357.1:c.*2267dup (MEF2C) | NP_001351286.1:n.*2267dup | |
| NR_146284.1:n.256-2276dup (MEF2C-AS2) | ||
| XM_006714625.4:c.*2267dup (MEF2C) | XP_006714688.1:n.*2267dup | |
| XM_017009478.2:c.*2267dup (MEF2C) | XP_016864967.1:n.*2267dup | |
| NM_001193350.2:c.*2267dup (MEF2C) | NP_001180279.1:n.*2267dup | |
| NM_001308002.3:c.*2267dup (MEF2C) | NP_001294931.1:n.*2267dup | |
| NM_001364329.2:c.*2267dup (MEF2C) | NP_001351258.1:n.*2267dup | |
| NM_001364330.2:c.*2267dup (MEF2C) | NP_001351259.1:n.*2267dup | |
| NM_001364331.2:c.*2267dup (MEF2C) | NP_001351260.1:n.*2267dup | |
| NM_001364333.2:c.*2267dup (MEF2C) | NP_001351262.1:n.*2267dup | |
| NM_001364339.2:c.*2267dup (MEF2C) | NP_001351268.1:n.*2267dup | |
| NM_001364344.2:c.*2267dup (MEF2C) | NP_001351273.1:n.*2267dup | |
| NM_001364345.2:c.*2424dup (MEF2C) | NP_001351274.1:n.*2424dup | |
| NM_001364346.2:c.*2424dup (MEF2C) | NP_001351275.1:n.*2424dup | |
| NM_001364347.2:c.*2424dup (MEF2C) | NP_001351276.1:n.*2424dup | |
| NM_001364348.2:c.*2424dup (MEF2C) | NP_001351277.1:n.*2424dup | |
| NM_001364349.2:c.*2424dup (MEF2C) | NP_001351278.1:n.*2424dup | |
| NM_001364352.2:c.*2424dup (MEF2C) | NP_001351281.1:n.*2424dup | |
| NM_001364353.2:c.*2267dup (MEF2C) | NP_001351282.1:n.*2267dup | |
| NM_001364354.2:c.*2424dup (MEF2C) | NP_001351283.1:n.*2424dup | |
| NM_001364355.2:c.*2424dup (MEF2C) | NP_001351284.1:n.*2424dup | |
| NM_002397.5:c.*2267dup (MEF2C) MANE Select | NP_002388.2:n.*2267dup | |
| NM_001193349.3:c.*2267dup (MEF2C) | NP_001180278.1:n.*2267dup | |
| NM_001363581.2:c.*2267dup (MEF2C) | NP_001350510.1:n.*2267dup | |
| NM_001364332.2:c.*2267dup (MEF2C) | NP_001351261.1:n.*2267dup | |
| NM_001364334.2:c.*2267dup (MEF2C) | NP_001351263.1:n.*2267dup | |
| NM_001364335.2:c.*2267dup (MEF2C) | NP_001351264.1:n.*2267dup | |
| NM_001364336.2:c.*2267dup (MEF2C) | NP_001351265.1:n.*2267dup | |
| NM_001364337.2:c.*2267dup (MEF2C) | NP_001351266.1:n.*2267dup | |
| NM_001364338.2:c.*2267dup (MEF2C) | NP_001351267.1:n.*2267dup | |
| NM_001364340.2:c.*2267dup (MEF2C) | NP_001351269.1:n.*2267dup | |
| NM_001364341.2:c.*2267dup (MEF2C) | NP_001351270.1:n.*2267dup | |
| NM_001364342.2:c.*2267dup (MEF2C) | NP_001351271.1:n.*2267dup | |
| NM_001364343.2:c.*2267dup (MEF2C) | NP_001351272.1:n.*2267dup | |
| NM_001364350.2:c.*2424dup (MEF2C) | NP_001351279.1:n.*2424dup | |
| NM_001364356.2:c.*2267dup (MEF2C) | NP_001351285.1:n.*2267dup | |
| NM_001364357.2:c.*2267dup (MEF2C) | NP_001351286.1:n.*2267dup |