Canonical Allele Identifier: CA386698897
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111352109A>G (hg19) chr12:g.110914305A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914305A>G , CM000674.2:g.110914305A>G GRCh38
NC_000012.11:g.111352109A>G , CM000674.1:g.111352109A>G GRCh37
NC_000012.10:g.109836492A>G NCBI36
NG_007554.1:g.11273T>C , LRG_393:g.11273T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.170-15T>C MANE Select ENSP00000228841.8:n.170-15T>C
ENST00000663220.1:c.113-15T>C ENSP00000499568.1:n.113-15T>C
ENST00000228841.12:c.170-15T>C ENSP00000228841.7:n.170-15T>C
ENST00000548438.1:c.113T>C ENSP00000447154.1:p.Val38Ala
NM_000432.3:c.170-15T>C , LRG_393t1:c.170-15T>C NP_000423.2:n.170-15T>C
NM_000432.4:c.170-15T>C MANE Select NP_000423.2:n.170-15T>C
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