Canonical Allele Identifier: CA10625310

Gene: MEF2C MEF2C-AS1

Linked Data

• ClinVar Variation Id: 354607
• ClinVar RCV Id: RCV000345896
• dbSNP Id: rs567979916
• gnomAD v2: 5-88179154-AAGG-A
• gnomAD v3: 5-88883337-AAGG-A
• gnomAD v4: 5-88883337-AAGG-A
• MyVariant Identifiers: chr5:g.88179158_88179160del (hg19) ; chr5:g.88179155_88179157del (hg19) ; chr5:g.88883341_88883343del (hg38) ; chr5:g.88883338_88883340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.88883358_88883360del , CM000667.2:g.88883358_88883360del	GRCh38
NC_000005.9:g.88179175_88179177del , CM000667.1:g.88179175_88179177del	GRCh37
NC_000005.8:g.88214931_88214933del	NCBI36
NG_023427.1:g.25766_25768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000636061.1:n.61-341_61-339del (MEF2C)
ENST00000636998.1:c.-185+312_-185+314del (MEF2C)	ENSP00000490630.1:n.-185+312_-185+314del
ENST00000637663.1:n.347-341_347-339del (MEF2C)
ENST00000340208.9:c.-143+4162_-143+4164del (MEF2C)	ENSP00000340874.5:n.-143+4162_-143+4164del
ENST00000424173.6:c.-143+4162_-143+4164del (MEF2C)	ENSP00000389610.2:n.-143+4162_-143+4164del
ENST00000437473.6:c.-525_-523del (MEF2C)	ENSP00000396219.2:n.-525_-523del
ENST00000502983.5:c.-143+1149_-143+1151del (MEF2C)	ENSP00000427163.1:n.-143+1149_-143+1151del
ENST00000504921.6:c.-528_-526del (MEF2C)	ENSP00000421925.4:n.-528_-526del
ENST00000515093.1:n.371+4162_371+4164del (MEF2C)
ENST00000625674.2:c.-140+4162_-140+4164del (MEF2C)	ENSP00000487430.1:n.-140+4162_-140+4164del
ENST00000627659.2:c.-140+4162_-140+4164del (MEF2C)	ENSP00000486490.1:n.-140+4162_-140+4164del
ENST00000629612.2:c.-140+4162_-140+4164del (MEF2C)	ENSP00000486554.1:n.-140+4162_-140+4164del
NM_001131005.2:c.-143+4162_-143+4164del (MEF2C)	NP_001124477.1:n.-143+4162_-143+4164del
NM_001193347.1:c.-143+4162_-143+4164del (MEF2C)	NP_001180276.1:n.-143+4162_-143+4164del
NM_001193350.1:c.-525_-523del (MEF2C)	NP_001180279.1:n.-525_-523del
NM_002397.4:c.-528_-526del (MEF2C)	NP_002388.2:n.-528_-526del
NR_109941.1:n.29_31del (MEF2C-AS1)
XM_005248511.1:c.-143+1149_-143+1151del (MEF2C)	XP_005248568.1:n.-143+1149_-143+1151del
XM_006714618.1:c.-140+4162_-140+4164del (MEF2C)	XP_006714681.1:n.-140+4162_-140+4164del
XM_006714619.1:c.-140+4162_-140+4164del (MEF2C)	XP_006714682.1:n.-140+4162_-140+4164del
XM_011543396.1:c.-143+4162_-143+4164del (MEF2C)	XP_011541698.1:n.-143+4162_-143+4164del
NM_001364329.1:c.-140+4162_-140+4164del (MEF2C)	NP_001351258.1:n.-140+4162_-140+4164del
NM_001364330.1:c.-143+4162_-143+4164del (MEF2C)	NP_001351259.1:n.-143+4162_-143+4164del
NM_001364334.1:c.-140+4162_-140+4164del (MEF2C)	NP_001351263.1:n.-140+4162_-140+4164del
NM_001364335.1:c.-143+1149_-143+1151del (MEF2C)	NP_001351264.1:n.-143+1149_-143+1151del
NM_001364345.1:c.-143+1149_-143+1151del (MEF2C)	NP_001351274.1:n.-143+1149_-143+1151del
NR_136218.1:n.29_31del (MEF2C-AS1)
NR_136219.1:n.29_31del (MEF2C-AS1)
XM_005248511.3:c.-143+1149_-143+1151del (MEF2C)	XP_005248568.1:n.-143+1149_-143+1151del
XM_011543396.3:c.-143+4162_-143+4164del (MEF2C)	XP_011541698.1:n.-143+4162_-143+4164del
XM_024446057.1:c.-627_-625del (MEF2C)	XP_024301825.1:n.-627_-625del
NM_001364329.2:c.-140+4162_-140+4164del (MEF2C)	NP_001351258.1:n.-140+4162_-140+4164del
NM_001364330.2:c.-143+4162_-143+4164del (MEF2C)	NP_001351259.1:n.-143+4162_-143+4164del
NM_001364345.2:c.-143+1149_-143+1151del (MEF2C)	NP_001351274.1:n.-143+1149_-143+1151del
NM_001364334.2:c.-140+4162_-140+4164del (MEF2C)	NP_001351263.1:n.-140+4162_-140+4164del
NM_001364335.2:c.-143+1149_-143+1151del (MEF2C)	NP_001351264.1:n.-143+1149_-143+1151del