Canonical Allele Identifier: CA481751002
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1161314
ClinVar RCV Id: RCV001505720
dbSNP Id: rs1240275237
gnomAD v4: 12-110914211-G-A
MyVariant Identifiers: chr12:g.111352015G>A (hg19) chr12:g.110914211G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914211G>A , CM000674.2:g.110914211G>A GRCh38
NC_000012.11:g.111352015G>A , CM000674.1:g.111352015G>A GRCh37
NC_000012.10:g.109836398G>A NCBI36
NG_007554.1:g.11367C>T , LRG_393:g.11367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.249C>T MANE Select ENSP00000228841.8:p.Leu83=
ENST00000663220.1:c.192C>T ENSP00000499568.1:p.Leu64=
ENST00000228841.12:c.249C>T ENSP00000228841.7:p.Leu83=
ENST00000548438.1:c.207C>T ENSP00000447154.1:p.Leu69=
ENST00000549029.1:n.80C>T
NM_000432.3:c.249C>T , LRG_393t1:c.249C>T NP_000423.2:p.Leu83=
NM_000432.4:c.249C>T MANE Select NP_000423.2:p.Leu83=
Search 100 bp 5'
Search 100 bp 3'