Canonical Allele Identifier: CA386698124
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351115C>G (hg19) chr12:g.110913311C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913311C>G , CM000674.2:g.110913311C>G GRCh38
NC_000012.11:g.111351115C>G , CM000674.1:g.111351115C>G GRCh37
NC_000012.10:g.109835498C>G NCBI36
NG_007554.1:g.12267G>C , LRG_393:g.12267G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.288G>C MANE Select ENSP00000228841.8:p.Glu96Asp
ENST00000663220.1:c.231G>C ENSP00000499568.1:p.Glu77Asp
ENST00000228841.12:c.288G>C ENSP00000228841.7:p.Glu96Asp
ENST00000548438.1:c.246G>C ENSP00000447154.1:p.Glu82Asp
ENST00000549029.1:n.119G>C
NM_000432.3:c.288G>C , LRG_393t1:c.288G>C NP_000423.2:p.Glu96Asp
NM_000432.4:c.288G>C MANE Select NP_000423.2:p.Glu96Asp
Search 100 bp 5'
Search 100 bp 3'