Canonical Allele Identifier: CA042421
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 518927
ClinVar RCV Id: RCV000618872 RCV001190199 RCV001417069 RCV004002662
dbSNP Id: rs774686046
ExAC: 12:111350915 C / T
gnomAD v2: 12-111350915-C-T
gnomAD v3: 12-110913111-C-T
gnomAD v4: 12-110913111-C-T
MyVariant Identifiers: chr12:g.111350915C>T (hg19) chr12:g.110913111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913111C>T , CM000674.2:g.110913111C>T GRCh38
NC_000012.11:g.111350915C>T , CM000674.1:g.111350915C>T GRCh37
NC_000012.10:g.109835298C>T NCBI36
NG_007554.1:g.12467G>A , LRG_393:g.12467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.387G>A MANE Select ENSP00000228841.8:p.Arg129=
ENST00000663220.1:c.330G>A ENSP00000499568.1:p.Arg110=
ENST00000228841.12:c.387G>A ENSP00000228841.7:p.Arg129=
ENST00000548438.1:c.345G>A ENSP00000447154.1:p.Arg115=
NM_000432.3:c.387G>A , LRG_393t1:c.387G>A NP_000423.2:p.Arg129=
NM_000432.4:c.387G>A MANE Select NP_000423.2:p.Arg129=
Search 100 bp 5'
Search 100 bp 3'