Canonical Allele Identifier: CA386698664
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2017686
ClinVar RCV Id: RCV002856950
gnomAD v4: 12-110914197-T-G
MyVariant Identifiers: chr12:g.111352001T>G (hg19) chr12:g.110914197T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914197T>G , CM000674.2:g.110914197T>G GRCh38
NC_000012.11:g.111352001T>G , CM000674.1:g.111352001T>G GRCh37
NC_000012.10:g.109836384T>G NCBI36
NG_007554.1:g.11381A>C , LRG_393:g.11381A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.263A>C MANE Select ENSP00000228841.8:p.Glu88Ala
ENST00000663220.1:c.206A>C ENSP00000499568.1:p.Glu69Ala
ENST00000228841.12:c.263A>C ENSP00000228841.7:p.Glu88Ala
ENST00000548438.1:c.221A>C ENSP00000447154.1:p.Glu74Ala
ENST00000549029.1:n.94A>C
NM_000432.3:c.263A>C , LRG_393t1:c.263A>C NP_000423.2:p.Glu88Ala
NM_000432.4:c.263A>C MANE Select NP_000423.2:p.Glu88Ala
Search 100 bp 5'
Search 100 bp 3'