Canonical Allele Identifier: CA275451698
Gene: MEF2A HGNC NCBI
LYSMD4 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1059759

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99714829G>C , CM000677.2:g.99714829G>C GRCh38
NC_000015.9:g.100255034G>C , CM000677.1:g.100255034G>C GRCh37
NC_000015.8:g.98072557G>C NCBI36
NG_016443.1:g.153902G>C
NG_016443.2:g.153902G>C

Transcript Alleles

HGVS Amino-acid change
NM_001130926.1:c.*2058G>C (MEF2A) VV NP_001124398.1:p.=
NM_001130927.1:c.*2058G>C (MEF2A) VV NP_001124399.1:p.=
NM_001130928.1:c.*2058G>C (MEF2A) VV NP_001124400.1:p.=
NM_001171894.1:c.*2058G>C (MEF2A) VV NP_001165365.1:p.=
NM_005587.2:c.*2058G>C (MEF2A) VV NP_005578.2:p.=
XM_005254914.1:c.*2058G>C (MEF2A) XP_005254971.1:p.=
XM_005254915.1:c.*2058G>C (MEF2A) XP_005254972.1:p.=
XM_011521571.1:c.*2058G>C (MEF2A) XP_011519873.1:p.=
XM_011521572.1:c.*2058G>C (MEF2A) XP_011519874.1:p.=
XM_011521573.1:c.*2058G>C (MEF2A) XP_011519875.1:p.=
XM_011521574.1:c.*2058G>C (MEF2A) XP_011519876.1:p.=
XM_011521575.1:c.*2058G>C (MEF2A) XP_011519877.1:p.=
XM_011521576.1:c.*2058G>C (MEF2A) XP_011519878.1:p.=
XM_011521577.1:c.*2058G>C (MEF2A) XP_011519879.1:p.=
XM_011521578.1:c.*2058G>C (MEF2A) XP_011519880.1:p.=
XM_011521579.1:c.*2058G>C (MEF2A) XP_011519881.1:p.=
XM_011521580.1:c.*2058G>C (MEF2A) XP_011519882.1:p.=
XM_011521581.1:c.*2058G>C (MEF2A) XP_011519883.1:p.=
XM_011521582.1:c.*2058G>C (MEF2A) XP_011519884.1:p.=
XM_011521583.1:c.*2058G>C (MEF2A) XP_011519885.1:p.=
XM_011521584.1:c.*2058G>C (MEF2A) XP_011519886.1:p.=
XM_011521585.1:c.*2058G>C (MEF2A) XP_011519887.1:p.=
XM_011521586.1:c.*2058G>C (MEF2A) XP_011519888.1:p.=
XM_011521587.1:c.*2058G>C (MEF2A) XP_011519889.1:p.=
XM_011521588.1:c.*2058G>C (MEF2A) XP_011519890.1:p.=
XM_011521589.1:c.*2058G>C (MEF2A) XP_011519891.1:p.=
NM_001130926.2:c.*2058G>C (MEF2A) VV
NM_001130927.2:c.*2058G>C (MEF2A) VV
NM_001130928.2:c.*2058G>C (MEF2A) VV
NM_001171894.2:c.*2058G>C (MEF2A) VV
NM_001319206.1:c.*2058G>C (MEF2A) VV NP_001306135.1:p.=
NM_001352614.1:c.*2058G>C (MEF2A) VV NP_001339543.1:p.=
NM_001352615.1:c.*2058G>C (MEF2A) VV NP_001339544.1:p.=
NM_001352616.1:c.*2058G>C (MEF2A) VV NP_001339545.1:p.=
NM_001352617.1:c.*2058G>C (MEF2A) VV NP_001339546.1:p.=
NM_001352618.1:c.*2058G>C (MEF2A) VV NP_001339547.1:p.=
NM_001365201.1:c.*2058G>C (MEF2A) VV NP_001352130.1:p.=
NM_001365202.1:c.*2058G>C (MEF2A) VV NP_001352131.1:p.=
NM_001365203.1:c.*2058G>C (MEF2A) VV NP_001352132.1:p.=
NM_001365204.1:c.*2058G>C (MEF2A) VV NP_001352133.1:p.=
NM_001365205.1:c.*2058G>C (MEF2A) VV NP_001352134.1:p.=
NM_001365206.1:c.*2058G>C (MEF2A) VV NP_001352135.1:p.=
NM_001365207.1:c.*2058G>C (MEF2A) VV NP_001352136.1:p.=
NM_001365208.1:c.*2058G>C (MEF2A) VV NP_001352137.1:p.=
NM_001365209.1:c.*2058G>C (MEF2A) VV NP_001352138.1:p.=
NM_005587.3:c.*2058G>C (MEF2A) VV
XM_005254915.2:c.*2058G>C (MEF2A)
XM_011521245.3:c.*2971C>G (LYSMD4)
XM_011521571.3:c.*2058G>C (MEF2A)
XM_011521572.2:c.*2058G>C (MEF2A)
XM_011521573.2:c.*2058G>C (MEF2A)
XM_011521576.2:c.*2058G>C (MEF2A)
XM_011521577.2:c.*2058G>C (MEF2A)
XM_011521578.2:c.*2058G>C (MEF2A)
XM_011521579.2:c.*2058G>C (MEF2A)
XM_011521581.3:c.*2058G>C (MEF2A)
XM_011521582.2:c.*2058G>C (MEF2A)
XM_011521583.2:c.*2058G>C (MEF2A)
XM_011521585.2:c.*2058G>C (MEF2A)
XM_011521586.2:c.*2058G>C (MEF2A)
XM_011521587.2:c.*2058G>C (MEF2A)
XM_017022190.1:c.*2058G>C (MEF2A) XP_016877679.1:p.=
XM_017022191.1:c.*2058G>C (MEF2A) XP_016877680.1:p.=
XM_017022192.1:c.*2058G>C (MEF2A) XP_016877681.1:p.=
XM_017022194.1:c.*2058G>C (MEF2A) XP_016877683.1:p.=
XM_017022195.1:c.*2058G>C (MEF2A) XP_016877684.1:p.=
XM_017022196.1:c.*2058G>C (MEF2A) XP_016877685.1:p.=
XM_017022197.2:c.*2058G>C (MEF2A) XP_016877686.1:p.=
XM_017022198.2:c.*2058G>C (MEF2A) XP_016877687.1:p.=
XM_017022199.1:c.*2058G>C (MEF2A) XP_016877688.1:p.=
XM_017022200.1:c.*2058G>C (MEF2A) XP_016877689.1:p.=
XM_017022201.1:c.*2058G>C (MEF2A) XP_016877690.1:p.=
XM_017022202.1:c.*2058G>C (MEF2A) XP_016877691.1:p.=
XR_001751095.2:n.3694C>G (LYSMD4)
ENST00000338042.10:c.*2058G>C ENSP00000337202.7:p.=
ENST00000354410.9:c.*2058G>C ENSP00000346389.5:p.=
ENST00000449277.6:c.*2058G>C ENSP00000399460.2:p.=
ENST00000557942.5:c.*2058G>C ENSP00000453095.1:p.=
ENST00000561125.2:n.835-639G>C