Canonical Allele Identifier: CA7755653

Gene: MEF2A

Linked Data

• ClinVar Variation Id: 403080
• ClinVar RCV Id: RCV000455204 ; RCV003972724
• dbSNP Id: rs3138597
• ExAC: 15:100252709 CCAGCAG / C
• gnomAD v2: 15-100252709-CCAGCAG-C
• gnomAD v3: 15-99712504-CCAGCAG-C
• gnomAD v4: 15-99712504-CCAGCAG-C
• COSMIC: COSM1477902 ; COSM1477903 ; COSM1477904 ; COSM5446148 ; COSM5446149 ; COSM5446150
• MyVariant Identifiers: chr15:g.100252738_100252743del (hg19) ; chr15:g.100252722_100252727del (hg19) ; chr15:g.100252719_100252724del (hg19) ; chr15:g.100252710_100252715del (hg19) ; chr15:g.99712533_99712538del (hg38) ; chr15:g.99712514_99712519del (hg38) ; chr15:g.99712505_99712510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.99712533_99712538del , CM000677.2:g.99712533_99712538del	GRCh38
NC_000015.9:g.100252738_100252743del , CM000677.1:g.100252738_100252743del	GRCh37
NC_000015.8:g.98070261_98070266del	NCBI36
NG_016443.1:g.151606_151611del
NG_016443.2:g.151606_151611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000705985.1:c.1298_1303del	ENSP00000516195.1:p.Gln433_Gln434del
ENST00000338042.11:c.1298_1303del	ENSP00000337202.8:p.Gln433_Gln434del
ENST00000557942.6:c.1280_1285del MANE Select	ENSP00000453095.1:p.Gln427_Gln428del
ENST00000685785.1:c.1274_1279del	ENSP00000508747.1:p.Gln425_Gln426del
ENST00000686611.1:c.1286_1291del	ENSP00000509137.1:p.Gln429_Gln430del
ENST00000690055.1:c.1298_1303del	ENSP00000509700.1:p.Gln433_Gln434del
ENST00000691492.1:c.1256_1261del	ENSP00000509537.1:p.Gln419_Gln420del
ENST00000338042.10:c.1256_1261del	ENSP00000337202.7:p.Gln419_Gln420del
ENST00000354410.9:c.1262_1267del	ENSP00000346389.5:p.Gln421_Gln422del
ENST00000449277.6:c.1052_1057del	ENSP00000399460.2:p.Gln351_Gln352del
ENST00000557785.5:c.1256_1261del	ENSP00000453441.1:p.Gln419_Gln420del
ENST00000557942.5:c.1280_1285del	ENSP00000453095.1:p.Gln427_Gln428del
ENST00000558812.5:c.1076_1081del	ENSP00000454120.1:p.Gln359_Gln360del
ENST00000561125.2:n.532_537del
NM_001130926.1:c.1256_1261del	NP_001124398.1:p.Gln419_Gln420del
NM_001130927.1:c.1076_1081del	NP_001124399.1:p.Gln359_Gln360del
NM_001130928.1:c.1052_1057del	NP_001124400.1:p.Gln351_Gln352del
NM_001171894.1:c.1256_1261del	NP_001165365.1:p.Gln419_Gln420del
NM_005587.2:c.1262_1267del	NP_005578.2:p.Gln421_Gln422del
XM_005254914.1:c.1274_1279del	XP_005254971.1:p.Gln425_Gln426del
XM_005254915.1:c.1256_1261del	XP_005254972.1:p.Gln419_Gln420del
XM_011521571.1:c.1298_1303del	XP_011519873.1:p.Gln433_Gln434del
XM_011521572.1:c.1298_1303del	XP_011519874.1:p.Gln433_Gln434del
XM_011521573.1:c.1298_1303del	XP_011519875.1:p.Gln433_Gln434del
XM_011521574.1:c.1298_1303del	XP_011519876.1:p.Gln433_Gln434del
XM_011521575.1:c.1298_1303del	XP_011519877.1:p.Gln433_Gln434del
XM_011521576.1:c.1298_1303del	XP_011519878.1:p.Gln433_Gln434del
XM_011521577.1:c.1298_1303del	XP_011519879.1:p.Gln433_Gln434del
XM_011521578.1:c.1298_1303del	XP_011519880.1:p.Gln433_Gln434del
XM_011521579.1:c.1298_1303del	XP_011519881.1:p.Gln433_Gln434del
XM_011521580.1:c.1298_1303del	XP_011519882.1:p.Gln433_Gln434del
XM_011521581.1:c.1286_1291del	XP_011519883.1:p.Gln429_Gln430del
XM_011521582.1:c.1286_1291del	XP_011519884.1:p.Gln429_Gln430del
XM_011521583.1:c.1280_1285del	XP_011519885.1:p.Gln427_Gln428del
XM_011521584.1:c.1280_1285del	XP_011519886.1:p.Gln427_Gln428del
XM_011521585.1:c.1094_1099del	XP_011519887.1:p.Gln365_Gln366del
XM_011521586.1:c.1076_1081del	XP_011519888.1:p.Gln359_Gln360del
XM_011521587.1:c.1052_1057del	XP_011519889.1:p.Gln351_Gln352del
XM_011521588.1:c.926_931del	XP_011519890.1:p.Gln309_Gln310del
XM_011521589.1:c.863_868del	XP_011519891.1:p.Gln288_Gln289del
NM_001130926.2:c.1256_1261del	NP_001124398.1:p.Gln419_Gln420del
NM_001130927.2:c.1076_1081del	NP_001124399.1:p.Gln359_Gln360del
NM_001130928.2:c.1052_1057del	NP_001124400.1:p.Gln351_Gln352del
NM_001171894.2:c.1256_1261del	NP_001165365.1:p.Gln419_Gln420del
NM_001319206.1:c.1280_1285del	NP_001306135.1:p.Gln427_Gln428del
NM_001352614.1:c.1256_1261del	NP_001339543.1:p.Gln419_Gln420del
NM_001352615.1:c.1256_1261del	NP_001339544.1:p.Gln419_Gln420del
NM_001352616.1:c.1280_1285del	NP_001339545.1:p.Gln427_Gln428del
NM_001352617.1:c.1262_1267del	NP_001339546.1:p.Gln421_Gln422del
NM_001352618.1:c.1274_1279del	NP_001339547.1:p.Gln425_Gln426del
NM_001365201.1:c.1298_1303del	NP_001352130.1:p.Gln433_Gln434del
NM_001365202.1:c.1298_1303del	NP_001352131.1:p.Gln433_Gln434del
NM_001365203.1:c.1286_1291del	NP_001352132.1:p.Gln429_Gln430del
NM_001365204.1:c.1286_1291del	NP_001352133.1:p.Gln429_Gln430del
NM_001365205.1:c.1280_1285del	NP_001352134.1:p.Gln427_Gln428del
NM_001365206.1:c.1274_1279del	NP_001352135.1:p.Gln425_Gln426del
NM_001365207.1:c.1262_1267del	NP_001352136.1:p.Gln421_Gln422del
NM_001365208.1:c.1256_1261del	NP_001352137.1:p.Gln419_Gln420del
NM_001365209.1:c.1076_1081del	NP_001352138.1:p.Gln359_Gln360del
NM_005587.3:c.1262_1267del	NP_005578.2:p.Gln421_Gln422del
XM_005254915.2:c.1256_1261del	XP_005254972.1:p.Gln419_Gln420del
XM_011521571.3:c.1298_1303del	XP_011519873.1:p.Gln433_Gln434del
XM_011521572.2:c.1298_1303del	XP_011519874.1:p.Gln433_Gln434del
XM_011521573.2:c.1298_1303del	XP_011519875.1:p.Gln433_Gln434del
XM_011521576.2:c.1298_1303del	XP_011519878.1:p.Gln433_Gln434del
XM_011521577.2:c.1298_1303del	XP_011519879.1:p.Gln433_Gln434del
XM_011521578.2:c.1298_1303del	XP_011519880.1:p.Gln433_Gln434del
XM_011521579.2:c.1298_1303del	XP_011519881.1:p.Gln433_Gln434del
XM_011521581.3:c.1286_1291del	XP_011519883.1:p.Gln429_Gln430del
XM_011521582.2:c.1286_1291del	XP_011519884.1:p.Gln429_Gln430del
XM_011521583.2:c.1280_1285del	XP_011519885.1:p.Gln427_Gln428del
XM_011521585.2:c.1094_1099del	XP_011519887.1:p.Gln365_Gln366del
XM_011521586.2:c.1076_1081del	XP_011519888.1:p.Gln359_Gln360del
XM_011521587.2:c.1052_1057del	XP_011519889.1:p.Gln351_Gln352del
XM_017022190.1:c.1286_1291del	XP_016877679.1:p.Gln429_Gln430del
XM_017022191.1:c.1286_1291del	XP_016877680.1:p.Gln429_Gln430del
XM_017022192.1:c.1274_1279del	XP_016877681.1:p.Gln425_Gln426del
XM_017022194.1:c.1262_1267del	XP_016877683.1:p.Gln421_Gln422del
XM_017022195.1:c.1058_1063del	XP_016877684.1:p.Gln353_Gln354del
XM_017022196.1:c.926_931del	XP_016877685.1:p.Gln309_Gln310del
XM_017022197.2:c.914_919del	XP_016877686.1:p.Gln305_Gln306del
XM_017022198.2:c.914_919del	XP_016877687.1:p.Gln305_Gln306del
XM_017022199.1:c.902_907del	XP_016877688.1:p.Gln301_Gln302del
XM_017022200.1:c.890_895del	XP_016877689.1:p.Gln297_Gln298del
XM_017022201.1:c.890_895del	XP_016877690.1:p.Gln297_Gln298del
XM_017022202.1:c.863_868del	XP_016877691.1:p.Gln288_Gln289del
NM_001130927.3:c.1076_1081del	NP_001124399.1:p.Gln359_Gln360del
NM_001171894.3:c.1256_1261del	NP_001165365.1:p.Gln419_Gln420del
NM_001319206.2:c.1280_1285del	NP_001306135.1:p.Gln427_Gln428del
NM_001352614.2:c.1256_1261del	NP_001339543.1:p.Gln419_Gln420del
NM_001352615.2:c.1256_1261del	NP_001339544.1:p.Gln419_Gln420del
NM_001352616.2:c.1280_1285del	NP_001339545.1:p.Gln427_Gln428del
NM_001352617.2:c.1262_1267del	NP_001339546.1:p.Gln421_Gln422del
NM_001352618.2:c.1274_1279del	NP_001339547.1:p.Gln425_Gln426del
NM_005587.4:c.1262_1267del	NP_005578.2:p.Gln421_Gln422del
NM_001130926.5:c.1256_1261del	NP_001124398.1:p.Gln419_Gln420del
NM_001130927.5:c.1076_1081del	NP_001124399.1:p.Gln359_Gln360del
NM_001130928.4:c.1052_1057del	NP_001124400.1:p.Gln351_Gln352del
NM_001171894.5:c.1256_1261del	NP_001165365.1:p.Gln419_Gln420del
NM_001319206.4:c.1280_1285del MANE Select	NP_001306135.1:p.Gln427_Gln428del
NM_001352614.4:c.1256_1261del	NP_001339543.1:p.Gln419_Gln420del
NM_001352615.4:c.1256_1261del	NP_001339544.1:p.Gln419_Gln420del
NM_001352616.4:c.1280_1285del	NP_001339545.1:p.Gln427_Gln428del
NM_001352617.4:c.1262_1267del	NP_001339546.1:p.Gln421_Gln422del
NM_001352618.4:c.1274_1279del	NP_001339547.1:p.Gln425_Gln426del
NM_001365201.3:c.1298_1303del	NP_001352130.1:p.Gln433_Gln434del
NM_001365202.3:c.1298_1303del	NP_001352131.1:p.Gln433_Gln434del
NM_001365203.3:c.1286_1291del	NP_001352132.1:p.Gln429_Gln430del
NM_001365204.3:c.1286_1291del	NP_001352133.1:p.Gln429_Gln430del
NM_001365205.3:c.1280_1285del	NP_001352134.1:p.Gln427_Gln428del
NM_001365206.3:c.1274_1279del	NP_001352135.1:p.Gln425_Gln426del
NM_001365207.3:c.1262_1267del	NP_001352136.1:p.Gln421_Gln422del
NM_001365208.3:c.1256_1261del	NP_001352137.1:p.Gln419_Gln420del
NM_001365209.3:c.1076_1081del	NP_001352138.1:p.Gln359_Gln360del
NM_001393558.2:c.1058_1063del	NP_001380487.1:p.Gln353_Gln354del
NM_001393559.2:c.1052_1057del	NP_001380488.1:p.Gln351_Gln352del
NM_001393560.2:c.941_946del	NP_001380489.1:p.Gln314_Gln315del
NM_001393561.3:c.452_457del	NP_001380490.1:p.Gln151_Gln152del
NM_005587.6:c.1262_1267del	NP_005578.2:p.Gln421_Gln422del
NM_001400028.1:c.1394_1399del	NP_001386957.1:p.Gln465_Gln466del
NM_001400029.1:c.1286_1291del	NP_001386958.1:p.Gln429_Gln430del
NM_001400030.1:c.1286_1291del	NP_001386959.1:p.Gln429_Gln430del
NM_001400031.1:c.1280_1285del	NP_001386960.1:p.Gln427_Gln428del
NM_001400032.1:c.1280_1285del	NP_001386961.1:p.Gln427_Gln428del
NM_001400033.1:c.1280_1285del	NP_001386962.1:p.Gln427_Gln428del
NM_001400034.1:c.1280_1285del	NP_001386963.1:p.Gln427_Gln428del
NM_001400035.1:c.1280_1285del	NP_001386964.1:p.Gln427_Gln428del
NM_001400036.1:c.1280_1285del	NP_001386965.1:p.Gln427_Gln428del
NM_001400037.1:c.1274_1279del	NP_001386966.1:p.Gln425_Gln426del
NM_001400038.1:c.1262_1267del	NP_001386967.1:p.Gln421_Gln422del
NM_001400039.1:c.1262_1267del	NP_001386968.1:p.Gln421_Gln422del
NM_001400040.1:c.1262_1267del	NP_001386969.1:p.Gln421_Gln422del
NM_001400049.1:c.1262_1267del	NP_001386978.1:p.Gln421_Gln422del
NM_001400050.1:c.1262_1267del	NP_001386979.1:p.Gln421_Gln422del
NM_001400051.1:c.1262_1267del	NP_001386980.1:p.Gln421_Gln422del
NM_001400052.1:c.1262_1267del	NP_001386981.1:p.Gln421_Gln422del
NM_001400053.1:c.1262_1267del	NP_001386982.1:p.Gln421_Gln422del
NM_001400054.1:c.1256_1261del	NP_001386983.1:p.Gln419_Gln420del
NM_001400055.1:c.1256_1261del	NP_001386984.1:p.Gln419_Gln420del
NM_001400056.1:c.1256_1261del	NP_001386985.1:p.Gln419_Gln420del
NM_001400057.1:c.1256_1261del	NP_001386986.1:p.Gln419_Gln420del
NM_001400058.1:c.1256_1261del	NP_001386987.1:p.Gln419_Gln420del
NM_001400059.1:c.1256_1261del	NP_001386988.1:p.Gln419_Gln420del
NM_001400060.1:c.1256_1261del	NP_001386989.1:p.Gln419_Gln420del
NM_001400061.1:c.1256_1261del	NP_001386990.1:p.Gln419_Gln420del
NM_001400062.1:c.1256_1261del	NP_001386991.1:p.Gln419_Gln420del
NM_001400063.1:c.1256_1261del	NP_001386992.1:p.Gln419_Gln420del
NM_001400064.1:c.1256_1261del	NP_001386993.1:p.Gln419_Gln420del
NM_001400065.1:c.1256_1261del	NP_001386994.1:p.Gln419_Gln420del
NM_001400066.1:c.1256_1261del	NP_001386995.1:p.Gln419_Gln420del
NM_001400067.1:c.1082_1087del	NP_001386996.1:p.Gln361_Gln362del
NM_001400068.1:c.1058_1063del	NP_001386997.1:p.Gln353_Gln354del
NM_001400069.1:c.920_925del	NP_001386998.1:p.Gln307_Gln308del