Canonical Allele Identifier: CA104971821

Gene: MYOZ2

Linked Data

• dbSNP Id: rs747960340
• gnomAD v2: 4-120085282-A-C
• gnomAD v3: 4-119164127-A-C
• gnomAD v4: 4-119164127-A-C
• MyVariant Identifiers: chr4:g.120085282A>C (hg19) ; chr4:g.119164127A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164127A>C , CM000666.2:g.119164127A>C	GRCh38
NC_000004.11:g.120085282A>C , CM000666.1:g.120085282A>C	GRCh37
NC_000004.10:g.120304730A>C	NCBI36
NG_029747.1:g.33344A>C , LRG_396:g.33344A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.377-84A>C MANE Select	ENSP00000306997.6:n.377-84A>C
ENST00000307128.5:c.377-84A>C	ENSP00000306997.5:n.377-84A>C
NM_016599.4:c.377-84A>C , LRG_396t1:c.377-84A>C	NP_057683.1:n.377-84A>C
XM_006714234.2:c.377-84A>C	XP_006714297.1:n.377-84A>C
XM_006714234.4:c.377-84A>C	XP_006714297.1:n.377-84A>C
NM_016599.5:c.377-84A>C MANE Select	NP_057683.1:n.377-84A>C