Canonical Allele Identifier: CA1488811936
Gene: MYOZ2 HGNC NCBI

Linked Data

dbSNP Id: rs1741778762

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.119164411G>T , CM000666.2:g.119164411G>T GRCh38
NC_000004.11:g.120085566G>T , CM000666.1:g.120085566G>T GRCh37
NC_000004.10:g.120305014G>T NCBI36
NG_029747.1:g.33628G>T , LRG_396:g.33628G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307128.6:c.560+17G>T MANE Select ENSP00000306997.6:n.560+17G>T
ENST00000307128.5:c.560+17G>T ENSP00000306997.5:n.560+17G>T
NM_016599.4:c.560+17G>T , LRG_396t1:c.560+17G>T NP_057683.1:n.560+17G>T
XM_006714234.2:c.560+17G>T XP_006714297.1:n.560+17G>T
XM_006714234.4:c.560+17G>T XP_006714297.1:n.560+17G>T
NM_016599.5:c.560+17G>T MANE Select NP_057683.1:n.560+17G>T