Canonical Allele Identifier: CA2578177020

Gene: MYOZ2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.119164124T>C , CM000666.2:g.119164124T>C	GRCh38
NC_000004.11:g.120085279T>C , CM000666.1:g.120085279T>C	GRCh37
NC_000004.10:g.120304727T>C	NCBI36
NG_029747.1:g.33341T>C , LRG_396:g.33341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307128.6:c.377-87T>C MANE Select	ENSP00000306997.6:n.377-87T>C
ENST00000307128.5:c.377-87T>C	ENSP00000306997.5:n.377-87T>C
NM_016599.4:c.377-87T>C , LRG_396t1:c.377-87T>C	NP_057683.1:n.377-87T>C
XM_006714234.2:c.377-87T>C	XP_006714297.1:n.377-87T>C
XM_006714234.4:c.377-87T>C	XP_006714297.1:n.377-87T>C
NM_016599.5:c.377-87T>C MANE Select	NP_057683.1:n.377-87T>C