Canonical Allele Identifier: CA386698647
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351995A>G (hg19) chr12:g.110914191A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914191A>G , CM000674.2:g.110914191A>G GRCh38
NC_000012.11:g.111351995A>G , CM000674.1:g.111351995A>G GRCh37
NC_000012.10:g.109836378A>G NCBI36
NG_007554.1:g.11387T>C , LRG_393:g.11387T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.269T>C MANE Select ENSP00000228841.8:p.Leu90Pro
ENST00000663220.1:c.212T>C ENSP00000499568.1:p.Leu71Pro
ENST00000228841.12:c.269T>C ENSP00000228841.7:p.Leu90Pro
ENST00000548438.1:c.227T>C ENSP00000447154.1:p.Leu76Pro
ENST00000549029.1:n.100T>C
NM_000432.3:c.269T>C , LRG_393t1:c.269T>C NP_000423.2:p.Leu90Pro
NM_000432.4:c.269T>C MANE Select NP_000423.2:p.Leu90Pro
Search 100 bp 5'
Search 100 bp 3'