Canonical Allele Identifier: CA386698136
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351117C>G (hg19) chr12:g.110913313C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913313C>G , CM000674.2:g.110913313C>G GRCh38
NC_000012.11:g.111351117C>G , CM000674.1:g.111351117C>G GRCh37
NC_000012.10:g.109835500C>G NCBI36
NG_007554.1:g.12265G>C , LRG_393:g.12265G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.286G>C MANE Select ENSP00000228841.8:p.Glu96Gln
ENST00000663220.1:c.229G>C ENSP00000499568.1:p.Glu77Gln
ENST00000228841.12:c.286G>C ENSP00000228841.7:p.Glu96Gln
ENST00000548438.1:c.244G>C ENSP00000447154.1:p.Glu82Gln
ENST00000549029.1:n.117G>C
NM_000432.3:c.286G>C , LRG_393t1:c.286G>C NP_000423.2:p.Glu96Gln
NM_000432.4:c.286G>C MANE Select NP_000423.2:p.Glu96Gln
Search 100 bp 5'
Search 100 bp 3'