Canonical Allele Identifier: CA1109717314
Gene: MYOM2 HGNC NCBI
gnomAD v3:
8:2092276 C / G
gnomAD v4:
chr8-2092276-C-G
Joint Max Group AF 7.1e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
dbSNP:
2235121
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.2092276C>G , CM000670.2:g.2092276C>G GRCh38
NC_000008.9:g.2027511C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262113.9:c.1829-70C>G MANE Select ENSP00000262113.4:n.1829-70C>G
ENST00000262113.8:c.1829-70C>G ENSP00000262113.4:n.1829-70C>G
ENST00000518803.1:n.335-70C>G
ENST00000523438.1:c.104-70C>G ENSP00000428396.1:n.104-70C>G
NM_003970.3:c.1829-70C>G NP_003961.3:n.1829-70C>G
XM_006716237.1:c.1829-70C>G XP_006716300.1:n.1829-70C>G
NM_003970.4:c.1829-70C>G MANE Select NP_003961.3:n.1829-70C>G
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