Canonical Allele Identifier: CA386698709
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111352022A>T (hg19) chr12:g.110914218A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914218A>T , CM000674.2:g.110914218A>T GRCh38
NC_000012.11:g.111352022A>T , CM000674.1:g.111352022A>T GRCh37
NC_000012.10:g.109836405A>T NCBI36
NG_007554.1:g.11360T>A , LRG_393:g.11360T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.242T>A MANE Select ENSP00000228841.8:p.Val81Glu
ENST00000663220.1:c.185T>A ENSP00000499568.1:p.Val62Glu
ENST00000228841.12:c.242T>A ENSP00000228841.7:p.Val81Glu
ENST00000548438.1:c.200T>A ENSP00000447154.1:p.Val67Glu
ENST00000549029.1:n.73T>A
NM_000432.3:c.242T>A , LRG_393t1:c.242T>A NP_000423.2:p.Val81Glu
NM_000432.4:c.242T>A MANE Select NP_000423.2:p.Val81Glu
Search 100 bp 5'
Search 100 bp 3'