Canonical Allele Identifier: CA386698656
Gene: MYL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914194T>G , CM000674.2:g.110914194T>G GRCh38
NC_000012.11:g.111351998T>G , CM000674.1:g.111351998T>G GRCh37
NC_000012.10:g.109836381T>G NCBI36
NG_007554.1:g.11384A>C , LRG_393:g.11384A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.266A>C MANE Select ENSP00000228841.8:p.Lys89Thr
ENST00000663220.1:c.209A>C ENSP00000499568.1:p.Lys70Thr
ENST00000228841.12:c.266A>C ENSP00000228841.7:p.Lys89Thr
ENST00000548438.1:c.224A>C ENSP00000447154.1:p.Lys75Thr
ENST00000549029.1:n.97A>C
NM_000432.3:c.266A>C , LRG_393t1:c.266A>C NP_000423.2:p.Lys89Thr
NM_000432.4:c.266A>C MANE Select NP_000423.2:p.Lys89Thr