Canonical Allele Identifier: CA2630593621
Gene: MEF2A HGNC NCBI

Linked Data

gnomAD v4: 15-99674738-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99674738A>T , CM000677.2:g.99674738A>T GRCh38
NC_000015.9:g.100214943A>T , CM000677.1:g.100214943A>T GRCh37
NC_000015.8:g.98032466A>T NCBI36
NG_016443.1:g.113811A>T
NG_016443.2:g.113811A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000705985.1:c.628+126A>T ENSP00000516195.1:n.628+126A>T
ENST00000338042.11:c.628+126A>T ENSP00000337202.8:n.628+126A>T
ENST00000557942.6:c.610+126A>T MANE Select ENSP00000453095.1:n.610+126A>T
ENST00000685785.1:c.628+126A>T ENSP00000508747.1:n.628+126A>T
ENST00000686611.1:c.616+126A>T ENSP00000509137.1:n.616+126A>T
ENST00000690055.1:c.628+126A>T ENSP00000509700.1:n.628+126A>T
ENST00000691492.1:c.610+126A>T ENSP00000509537.1:n.610+126A>T
ENST00000338042.10:c.610+126A>T ENSP00000337202.7:n.610+126A>T
ENST00000354410.9:c.616+126A>T ENSP00000346389.5:n.616+126A>T
ENST00000449277.6:c.406+126A>T ENSP00000399460.2:n.406+126A>T
ENST00000557785.5:c.610+126A>T ENSP00000453441.1:n.610+126A>T
ENST00000557942.5:c.610+126A>T ENSP00000453095.1:n.610+126A>T
ENST00000558812.5:c.406+126A>T ENSP00000454120.1:n.406+126A>T
NM_001130926.1:c.610+126A>T NP_001124398.1:n.610+126A>T
NM_001130927.1:c.406+126A>T NP_001124399.1:n.406+126A>T
NM_001130928.1:c.406+126A>T NP_001124400.1:n.406+126A>T
NM_001171894.1:c.610+126A>T NP_001165365.1:n.610+126A>T
NM_005587.2:c.616+126A>T NP_005578.2:n.616+126A>T
XM_005254914.1:c.628+126A>T XP_005254971.1:n.628+126A>T
XM_005254915.1:c.610+126A>T XP_005254972.1:n.610+126A>T
XM_005254916.3:c.628+126A>T XP_005254973.1:n.628+126A>T
XM_011521571.1:c.628+126A>T XP_011519873.1:n.628+126A>T
XM_011521572.1:c.628+126A>T XP_011519874.1:n.628+126A>T
XM_011521573.1:c.628+126A>T XP_011519875.1:n.628+126A>T
XM_011521574.1:c.628+126A>T XP_011519876.1:n.628+126A>T
XM_011521575.1:c.628+126A>T XP_011519877.1:n.628+126A>T
XM_011521576.1:c.628+126A>T XP_011519878.1:n.628+126A>T
XM_011521577.1:c.628+126A>T XP_011519879.1:n.628+126A>T
XM_011521578.1:c.628+126A>T XP_011519880.1:n.628+126A>T
XM_011521579.1:c.628+126A>T XP_011519881.1:n.628+126A>T
XM_011521580.1:c.628+126A>T XP_011519882.1:n.628+126A>T
XM_011521581.1:c.616+126A>T XP_011519883.1:n.616+126A>T
XM_011521582.1:c.616+126A>T XP_011519884.1:n.616+126A>T
XM_011521583.1:c.610+126A>T XP_011519885.1:n.610+126A>T
XM_011521584.1:c.610+126A>T XP_011519886.1:n.610+126A>T
XM_011521585.1:c.424+126A>T XP_011519887.1:n.424+126A>T
XM_011521586.1:c.406+126A>T XP_011519888.1:n.406+126A>T
XM_011521587.1:c.406+126A>T XP_011519889.1:n.406+126A>T
XM_011521588.1:c.256+126A>T XP_011519890.1:n.256+126A>T
XM_011521589.1:c.193+126A>T XP_011519891.1:n.193+126A>T
XM_011521590.1:c.628+126A>T XP_011519892.1:n.628+126A>T
XR_931837.1:n.994+126A>T
NM_001130926.2:c.610+126A>T NP_001124398.1:n.610+126A>T
NM_001130927.2:c.406+126A>T NP_001124399.1:n.406+126A>T
NM_001130928.2:c.406+126A>T NP_001124400.1:n.406+126A>T
NM_001171894.2:c.610+126A>T NP_001165365.1:n.610+126A>T
NM_001319206.1:c.610+126A>T NP_001306135.1:n.610+126A>T
NM_001352614.1:c.610+126A>T NP_001339543.1:n.610+126A>T
NM_001352615.1:c.610+126A>T NP_001339544.1:n.610+126A>T
NM_001352616.1:c.610+126A>T NP_001339545.1:n.610+126A>T
NM_001352617.1:c.616+126A>T NP_001339546.1:n.616+126A>T
NM_001352618.1:c.628+126A>T NP_001339547.1:n.628+126A>T
NM_001365201.1:c.628+126A>T NP_001352130.1:n.628+126A>T
NM_001365202.1:c.628+126A>T NP_001352131.1:n.628+126A>T
NM_001365203.1:c.616+126A>T NP_001352132.1:n.616+126A>T
NM_001365204.1:c.616+126A>T NP_001352133.1:n.616+126A>T
NM_001365205.1:c.610+126A>T NP_001352134.1:n.610+126A>T
NM_001365206.1:c.628+126A>T NP_001352135.1:n.628+126A>T
NM_001365207.1:c.616+126A>T NP_001352136.1:n.616+126A>T
NM_001365208.1:c.610+126A>T NP_001352137.1:n.610+126A>T
NM_001365209.1:c.406+126A>T NP_001352138.1:n.406+126A>T
NM_001365210.1:c.616+126A>T NP_001352139.1:n.616+126A>T
NM_001365211.1:c.610+126A>T NP_001352140.1:n.610+126A>T
NM_005587.3:c.616+126A>T NP_005578.2:n.616+126A>T
XM_005254915.2:c.610+126A>T XP_005254972.1:n.610+126A>T
XM_011521571.3:c.628+126A>T XP_011519873.1:n.628+126A>T
XM_011521572.2:c.628+126A>T XP_011519874.1:n.628+126A>T
XM_011521573.2:c.628+126A>T XP_011519875.1:n.628+126A>T
XM_011521576.2:c.628+126A>T XP_011519878.1:n.628+126A>T
XM_011521577.2:c.628+126A>T XP_011519879.1:n.628+126A>T
XM_011521578.2:c.628+126A>T XP_011519880.1:n.628+126A>T
XM_011521579.2:c.628+126A>T XP_011519881.1:n.628+126A>T
XM_011521581.3:c.616+126A>T XP_011519883.1:n.616+126A>T
XM_011521582.2:c.616+126A>T XP_011519884.1:n.616+126A>T
XM_011521583.2:c.610+126A>T XP_011519885.1:n.610+126A>T
XM_011521585.2:c.424+126A>T XP_011519887.1:n.424+126A>T
XM_011521586.2:c.406+126A>T XP_011519888.1:n.406+126A>T
XM_011521587.2:c.406+126A>T XP_011519889.1:n.406+126A>T
XM_011521590.2:c.628+126A>T XP_011519892.1:n.628+126A>T
XM_017022190.1:c.616+126A>T XP_016877679.1:n.616+126A>T
XM_017022191.1:c.616+126A>T XP_016877680.1:n.616+126A>T
XM_017022192.1:c.628+126A>T XP_016877681.1:n.628+126A>T
XM_017022194.1:c.616+126A>T XP_016877683.1:n.616+126A>T
XM_017022195.1:c.412+126A>T XP_016877684.1:n.412+126A>T
XM_017022196.1:c.256+126A>T XP_016877685.1:n.256+126A>T
XM_017022197.2:c.244+126A>T XP_016877686.1:n.244+126A>T
XM_017022198.2:c.244+126A>T XP_016877687.1:n.244+126A>T
XM_017022199.1:c.256+126A>T XP_016877688.1:n.256+126A>T
XM_017022200.1:c.244+126A>T XP_016877689.1:n.244+126A>T
XM_017022201.1:c.244+126A>T XP_016877690.1:n.244+126A>T
XM_017022202.1:c.193+126A>T XP_016877691.1:n.193+126A>T
XM_017022203.1:c.616+126A>T XP_016877692.1:n.616+126A>T
XM_017022204.1:c.610+126A>T XP_016877693.1:n.610+126A>T
XR_001751289.1:n.994+126A>T
NM_001130927.3:c.406+126A>T NP_001124399.1:n.406+126A>T
NM_001171894.3:c.610+126A>T NP_001165365.1:n.610+126A>T
NM_001319206.2:c.610+126A>T NP_001306135.1:n.610+126A>T
NM_001352614.2:c.610+126A>T NP_001339543.1:n.610+126A>T
NM_001352615.2:c.610+126A>T NP_001339544.1:n.610+126A>T
NM_001352616.2:c.610+126A>T NP_001339545.1:n.610+126A>T
NM_001352617.2:c.616+126A>T NP_001339546.1:n.616+126A>T
NM_001352618.2:c.628+126A>T NP_001339547.1:n.628+126A>T
NM_001365210.2:c.616+126A>T NP_001352139.1:n.616+126A>T
NM_001365211.2:c.610+126A>T NP_001352140.1:n.610+126A>T
NM_005587.4:c.616+126A>T NP_005578.2:n.616+126A>T
NM_001130926.5:c.610+126A>T NP_001124398.1:n.610+126A>T
NM_001130927.5:c.406+126A>T NP_001124399.1:n.406+126A>T
NM_001130928.4:c.406+126A>T NP_001124400.1:n.406+126A>T
NM_001171894.5:c.610+126A>T NP_001165365.1:n.610+126A>T
NM_001319206.4:c.610+126A>T MANE Select NP_001306135.1:n.610+126A>T
NM_001352614.4:c.610+126A>T NP_001339543.1:n.610+126A>T
NM_001352615.4:c.610+126A>T NP_001339544.1:n.610+126A>T
NM_001352616.4:c.610+126A>T NP_001339545.1:n.610+126A>T
NM_001352617.4:c.616+126A>T NP_001339546.1:n.616+126A>T
NM_001352618.4:c.628+126A>T NP_001339547.1:n.628+126A>T
NM_001365201.3:c.628+126A>T NP_001352130.1:n.628+126A>T
NM_001365202.3:c.628+126A>T NP_001352131.1:n.628+126A>T
NM_001365203.3:c.616+126A>T NP_001352132.1:n.616+126A>T
NM_001365204.3:c.616+126A>T NP_001352133.1:n.616+126A>T
NM_001365205.3:c.610+126A>T NP_001352134.1:n.610+126A>T
NM_001365206.3:c.628+126A>T NP_001352135.1:n.628+126A>T
NM_001365207.3:c.616+126A>T NP_001352136.1:n.616+126A>T
NM_001365208.3:c.610+126A>T NP_001352137.1:n.610+126A>T
NM_001365209.3:c.406+126A>T NP_001352138.1:n.406+126A>T
NM_001393558.2:c.412+126A>T NP_001380487.1:n.412+126A>T
NM_001393559.2:c.406+126A>T NP_001380488.1:n.406+126A>T
NM_001393560.2:c.610+126A>T NP_001380489.1:n.610+126A>T
NM_001393561.3:c.55-31991A>T NP_001380490.1:n.55-31991A>T
NM_005587.6:c.616+126A>T NP_005578.2:n.616+126A>T
NM_001400028.1:c.748+126A>T NP_001386957.1:n.748+126A>T
NM_001400029.1:c.616+126A>T NP_001386958.1:n.616+126A>T
NM_001400030.1:c.616+126A>T NP_001386959.1:n.616+126A>T
NM_001400031.1:c.610+126A>T NP_001386960.1:n.610+126A>T
NM_001400032.1:c.610+126A>T NP_001386961.1:n.610+126A>T
NM_001400033.1:c.610+126A>T NP_001386962.1:n.610+126A>T
NM_001400034.1:c.610+126A>T NP_001386963.1:n.610+126A>T
NM_001400035.1:c.610+126A>T NP_001386964.1:n.610+126A>T
NM_001400036.1:c.610+126A>T NP_001386965.1:n.610+126A>T
NM_001400037.1:c.628+126A>T NP_001386966.1:n.628+126A>T
NM_001400038.1:c.616+126A>T NP_001386967.1:n.616+126A>T
NM_001400039.1:c.616+126A>T NP_001386968.1:n.616+126A>T
NM_001400040.1:c.616+126A>T NP_001386969.1:n.616+126A>T
NM_001400049.1:c.616+126A>T NP_001386978.1:n.616+126A>T
NM_001400050.1:c.616+126A>T NP_001386979.1:n.616+126A>T
NM_001400051.1:c.616+126A>T NP_001386980.1:n.616+126A>T
NM_001400052.1:c.616+126A>T NP_001386981.1:n.616+126A>T
NM_001400053.1:c.616+126A>T NP_001386982.1:n.616+126A>T
NM_001400054.1:c.610+126A>T NP_001386983.1:n.610+126A>T
NM_001400055.1:c.610+126A>T NP_001386984.1:n.610+126A>T
NM_001400056.1:c.610+126A>T NP_001386985.1:n.610+126A>T
NM_001400057.1:c.610+126A>T NP_001386986.1:n.610+126A>T
NM_001400058.1:c.610+126A>T NP_001386987.1:n.610+126A>T
NM_001400059.1:c.610+126A>T NP_001386988.1:n.610+126A>T
NM_001400060.1:c.610+126A>T NP_001386989.1:n.610+126A>T
NM_001400061.1:c.610+126A>T NP_001386990.1:n.610+126A>T
NM_001400062.1:c.610+126A>T NP_001386991.1:n.610+126A>T
NM_001400063.1:c.610+126A>T NP_001386992.1:n.610+126A>T
NM_001400064.1:c.610+126A>T NP_001386993.1:n.610+126A>T
NM_001400065.1:c.610+126A>T NP_001386994.1:n.610+126A>T
NM_001400066.1:c.610+126A>T NP_001386995.1:n.610+126A>T
NM_001400067.1:c.412+126A>T NP_001386996.1:n.412+126A>T
NM_001400068.1:c.412+126A>T NP_001386997.1:n.412+126A>T
NM_001400069.1:c.274+126A>T NP_001386998.1:n.274+126A>T
NM_001400070.1:c.610+126A>T NP_001386999.1:n.610+126A>T
NM_001400071.1:c.610+126A>T NP_001387000.1:n.610+126A>T
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