Canonical Allele Identifier: CA243562312
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs35049558

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914287_110914288insCT , CM000674.2:g.110914287_110914288insCT GRCh38
NC_000012.11:g.111352091_111352092insCT , CM000674.1:g.111352091_111352092insCT GRCh37
NC_000012.10:g.109836474_109836475insCT NCBI36
NG_007554.1:g.11290_11291insAG , LRG_393:g.11290_11291insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.172_173insAG MANE Select ENSP00000228841.8:p.Arg58GlnfsTer3
ENST00000663220.1:c.115_116insAG ENSP00000499568.1:p.Arg39GlnfsTer3
ENST00000228841.12:c.172_173insAG ENSP00000228841.7:p.Arg58GlnfsTer3
ENST00000548438.1:c.130_131insAG ENSP00000447154.1:p.Arg44GlnfsTer3
ENST00000549029.1:n.3_4insAG
NM_000432.3:c.172_173insAG , LRG_393t1:c.172_173insAG NP_000423.2:p.Arg58GlnfsTer3
NM_000432.4:c.172_173insAG MANE Select NP_000423.2:p.Arg58GlnfsTer3