Canonical Allele Identifier: CA386698668
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 571147
ClinVar RCV Id: RCV000692199 RCV001538762
dbSNP Id: rs397516399
MyVariant Identifiers: chr12:g.111352004C>T (hg19) chr12:g.110914200C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914200C>T , CM000674.2:g.110914200C>T GRCh38
NC_000012.11:g.111352004C>T , CM000674.1:g.111352004C>T GRCh37
NC_000012.10:g.109836387C>T NCBI36
NG_007554.1:g.11378G>A , LRG_393:g.11378G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.260G>A MANE Select ENSP00000228841.8:p.Gly87Glu
ENST00000663220.1:c.203G>A ENSP00000499568.1:p.Gly68Glu
ENST00000228841.12:c.260G>A ENSP00000228841.7:p.Gly87Glu
ENST00000548438.1:c.218G>A ENSP00000447154.1:p.Gly73Glu
ENST00000549029.1:n.91G>A
NM_000432.3:c.260G>A , LRG_393t1:c.260G>A NP_000423.2:p.Gly87Glu
NM_000432.4:c.260G>A MANE Select NP_000423.2:p.Gly87Glu
Search 100 bp 5'
Search 100 bp 3'