Canonical Allele Identifier: CA2838392505
Gene: MYOZ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119185884G>T , CM000666.2:g.119185884G>T GRCh38
NC_000004.11:g.120107039G>T , CM000666.1:g.120107039G>T GRCh37
NC_000004.10:g.120326487G>T NCBI36
NG_029747.1:g.55101G>T , LRG_396:g.55101G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.561-82G>T MANE Select ENSP00000306997.6:n.561-82G>T
ENST00000307128.5:c.561-82G>T ENSP00000306997.5:n.561-82G>T
NM_016599.4:c.561-82G>T , LRG_396t1:c.561-82G>T NP_057683.1:n.561-82G>T
NM_016599.5:c.561-82G>T MANE Select NP_057683.1:n.561-82G>T
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