Canonical Allele Identifier: CA386698831
Gene: MYL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914272T>A , CM000674.2:g.110914272T>A GRCh38
NC_000012.11:g.111352076T>A , CM000674.1:g.111352076T>A GRCh37
NC_000012.10:g.109836459T>A NCBI36
NG_007554.1:g.11306A>T , LRG_393:g.11306A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.188A>T MANE Select ENSP00000228841.8:p.Asn63Ile
ENST00000663220.1:c.131A>T ENSP00000499568.1:p.Asn44Ile
ENST00000228841.12:c.188A>T ENSP00000228841.7:p.Asn63Ile
ENST00000548438.1:c.146A>T ENSP00000447154.1:p.Asn49Ile
ENST00000549029.1:n.19A>T
NM_000432.3:c.188A>T , LRG_393t1:c.188A>T NP_000423.2:p.Asn63Ile
NM_000432.4:c.188A>T MANE Select NP_000423.2:p.Asn63Ile