Canonical Allele Identifier: CA170455886
Gene: MYOM2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.2092276C>T
gnomAD v3:
8:2092276 C / T
gnomAD v4:
chr8-2092276-C-T
Joint Max Group AF 0.56423339 (NFE)
Genomes Max Group AF 0.55887101 (NFE)
Exomes Max Group AF 0.56431122 (NFE)
dbSNP:
2235121
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Genomic Alleles

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

Transcript Alleles

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