Canonical Allele Identifier: CA009979
Community Standard Title: NM_000432.4(MYL2):c.274+16_274+17insCT
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914170_110914171insGA , CM000674.2:g.110914170_110914171insGA GRCh38
NC_000012.11:g.111351974_111351975insGA , CM000674.1:g.111351974_111351975insGA GRCh37
NC_000012.10:g.109836357_109836358insGA NCBI36
NG_007554.1:g.11408_11409insCT , LRG_393:g.11408_11409insCT

Transcript Alleles

HGVS Amino-acid Change
NM_000432.4:c.274+16_274+17insCT MANE Select NP_000423.2:n.274+16_274+17insCT
ENST00000228841.15:c.274+16_274+17insCT MANE Select ENSP00000228841.8:n.274+16_274+17insCT
NM_000432.3:c.274+16_274+17insCT , LRG_393t1:c.274+16_274+17insCT NP_000423.2:n.274+16_274+17insCT
ENST00000228841.12:c.274+16_274+17insCT ENSP00000228841.7:n.274+16_274+17insCT
ENST00000548438.1:c.232+16_232+17insCT ENSP00000447154.1:n.232+16_232+17insCT
ENST00000549029.1:n.105+16_105+17insCT
ENST00000663220.1:c.217+16_217+17insCT ENSP00000499568.1:n.217+16_217+17insCT