Canonical Allele Identifier: CA2063070464
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913199_110913200delinsAG , CM000674.2:g.110913199_110913200delinsAG GRCh38
NC_000012.11:g.111351003_111351004delinsAG , CM000674.1:g.111351003_111351004delinsAG GRCh37
NC_000012.10:g.109835386_109835387delinsAG NCBI36
NG_007554.1:g.12378_12379delinsCT , LRG_393:g.12378_12379delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.353+46_353+47delinsCT MANE Select ENSP00000228841.8:n.353+46_353+47delinsCT
ENST00000663220.1:c.296+46_296+47delinsCT ENSP00000499568.1:n.296+46_296+47delinsCT
ENST00000228841.12:c.353+46_353+47delinsCT ENSP00000228841.7:n.353+46_353+47delinsCT
ENST00000548438.1:c.311+46_311+47delinsCT ENSP00000447154.1:n.311+46_311+47delinsCT
ENST00000549029.1:n.230_231delinsCT
NM_000432.3:c.353+46_353+47delinsCT , LRG_393t1:c.353+46_353+47delinsCT NP_000423.2:n.353+46_353+47delinsCT
NM_000432.4:c.353+46_353+47delinsCT MANE Select NP_000423.2:n.353+46_353+47delinsCT