Canonical Allele Identifier: CA386698643
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351993T>A (hg19) chr12:g.110914189T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914189T>A , CM000674.2:g.110914189T>A GRCh38
NC_000012.11:g.111351993T>A , CM000674.1:g.111351993T>A GRCh37
NC_000012.10:g.109836376T>A NCBI36
NG_007554.1:g.11389A>T , LRG_393:g.11389A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.271A>T MANE Select ENSP00000228841.8:p.Lys91Ter
ENST00000663220.1:c.214A>T ENSP00000499568.1:p.Lys72Ter
ENST00000228841.12:c.271A>T ENSP00000228841.7:p.Lys91Ter
ENST00000548438.1:c.229A>T ENSP00000447154.1:p.Lys77Ter
ENST00000549029.1:n.102A>T
NM_000432.3:c.271A>T , LRG_393t1:c.271A>T NP_000423.2:p.Lys91Ter
NM_000432.4:c.271A>T MANE Select NP_000423.2:p.Lys91Ter
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