Canonical Allele Identifier: CA386698649
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351996G>A (hg19) chr12:g.110914192G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914192G>A , CM000674.2:g.110914192G>A GRCh38
NC_000012.11:g.111351996G>A , CM000674.1:g.111351996G>A GRCh37
NC_000012.10:g.109836379G>A NCBI36
NG_007554.1:g.11386C>T , LRG_393:g.11386C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.268C>T MANE Select ENSP00000228841.8:p.Leu90Phe
ENST00000663220.1:c.211C>T ENSP00000499568.1:p.Leu71Phe
ENST00000228841.12:c.268C>T ENSP00000228841.7:p.Leu90Phe
ENST00000548438.1:c.226C>T ENSP00000447154.1:p.Leu76Phe
ENST00000549029.1:n.99C>T
NM_000432.3:c.268C>T , LRG_393t1:c.268C>T NP_000423.2:p.Leu90Phe
NM_000432.4:c.268C>T MANE Select NP_000423.2:p.Leu90Phe
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