Canonical Allele Identifier: CA607329233
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs1209187451
gnomAD v2: 12-111348716-G-A
gnomAD v3: 12-110910912-G-A
gnomAD v4: 12-110910912-G-A
MyVariant Identifiers: chr12:g.111348716G>A (hg19) chr12:g.110910912G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110910912G>A , CM000674.2:g.110910912G>A GRCh38
NC_000012.11:g.111348716G>A , CM000674.1:g.111348716G>A GRCh37
NC_000012.10:g.109833099G>A NCBI36
NG_007554.1:g.14666C>T , LRG_393:g.14666C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.*165C>T MANE Select ENSP00000228841.8:n.*165C>T
ENST00000663220.1:c.*165C>T ENSP00000499568.1:n.*165C>T
ENST00000228841.12:c.*165C>T ENSP00000228841.7:n.*165C>T
NM_000432.3:c.*165C>T , LRG_393t1:c.*165C>T NP_000423.2:n.*165C>T
NM_000432.4:c.*165C>T MANE Select NP_000423.2:n.*165C>T
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