Canonical Allele Identifier: CA104969004
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs559797489
gnomAD v2: 4-120057626-T-C
gnomAD v3: 4-119136471-T-C
gnomAD v4: 4-119136471-T-C
MyVariant Identifiers: chr4:g.120057626T>C (hg19) chr4:g.119136471T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119136471T>C , CM000666.2:g.119136471T>C GRCh38
NC_000004.11:g.120057626T>C , CM000666.1:g.120057626T>C GRCh37
NC_000004.10:g.120277074T>C NCBI36
NG_029747.1:g.5688T>C , LRG_396:g.5688T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307128.6:c.-14-41T>C MANE Select ENSP00000306997.6:n.-14-41T>C
ENST00000307128.5:c.-14-41T>C ENSP00000306997.5:n.-14-41T>C
NM_016599.4:c.-14-41T>C , LRG_396t1:c.-14-41T>C NP_057683.1:n.-14-41T>C
XM_006714234.2:c.-14-41T>C XP_006714297.1:n.-14-41T>C
XM_006714234.4:c.-14-41T>C XP_006714297.1:n.-14-41T>C
NM_016599.5:c.-14-41T>C MANE Select NP_057683.1:n.-14-41T>C
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