Canonical Allele Identifier: CA386698023
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351089A>T (hg19) chr12:g.110913285A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913285A>T , CM000674.2:g.110913285A>T GRCh38
NC_000012.11:g.111351089A>T , CM000674.1:g.111351089A>T GRCh37
NC_000012.10:g.109835472A>T NCBI36
NG_007554.1:g.12293T>A , LRG_393:g.12293T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.314T>A MANE Select ENSP00000228841.8:p.Val105Glu
ENST00000663220.1:c.257T>A ENSP00000499568.1:p.Val86Glu
ENST00000228841.12:c.314T>A ENSP00000228841.7:p.Val105Glu
ENST00000548438.1:c.272T>A ENSP00000447154.1:p.Val91Glu
ENST00000549029.1:n.145T>A
NM_000432.3:c.314T>A , LRG_393t1:c.314T>A NP_000423.2:p.Val105Glu
NM_000432.4:c.314T>A MANE Select NP_000423.2:p.Val105Glu
Search 100 bp 5'
Search 100 bp 3'