Canonical Allele Identifier: CA786082573
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1268927973
gnomAD v3: 4-119164157-G-C
gnomAD v4: 4-119164157-G-C
MyVariant Identifiers: chr4:g.120085312G>C (hg19) chr4:g.119164157G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164157G>C , CM000666.2:g.119164157G>C GRCh38
NC_000004.11:g.120085312G>C , CM000666.1:g.120085312G>C GRCh37
NC_000004.10:g.120304760G>C NCBI36
NG_029747.1:g.33374G>C , LRG_396:g.33374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.377-54G>C MANE Select ENSP00000306997.6:n.377-54G>C
ENST00000307128.5:c.377-54G>C ENSP00000306997.5:n.377-54G>C
NM_016599.4:c.377-54G>C , LRG_396t1:c.377-54G>C NP_057683.1:n.377-54G>C
XM_006714234.2:c.377-54G>C XP_006714297.1:n.377-54G>C
XM_006714234.4:c.377-54G>C XP_006714297.1:n.377-54G>C
NM_016599.5:c.377-54G>C MANE Select NP_057683.1:n.377-54G>C
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