Canonical Allele Identifier: CA2620916412
Gene: MYL2 HGNC NCBI

Linked Data

gnomAD v4: 12-110911019-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911019G>T , CM000674.2:g.110911019G>T GRCh38
NC_000012.11:g.111348823G>T , CM000674.1:g.111348823G>T GRCh37
NC_000012.10:g.109833206G>T NCBI36
NG_007554.1:g.14559C>A , LRG_393:g.14559C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.*58C>A MANE Select ENSP00000228841.8:n.*58C>A
ENST00000663220.1:c.*58C>A ENSP00000499568.1:n.*58C>A
ENST00000228841.12:c.*58C>A ENSP00000228841.7:n.*58C>A
ENST00000548438.1:c.*58C>A ENSP00000447154.1:n.*58C>A
NM_000432.3:c.*58C>A , LRG_393t1:c.*58C>A NP_000423.2:n.*58C>A
NM_000432.4:c.*58C>A MANE Select NP_000423.2:n.*58C>A
Search 100 bp 5'
Search 100 bp 3'