Canonical Allele Identifier: CA386698984
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs1357004896
gnomAD v3: 12-110914324-G-A
gnomAD v4: 12-110914324-G-A
MyVariant Identifiers: chr12:g.111352128G>A (hg19) chr12:g.110914324G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914324G>A , CM000674.2:g.110914324G>A GRCh38
NC_000012.11:g.111352128G>A , CM000674.1:g.111352128G>A GRCh37
NC_000012.10:g.109836511G>A NCBI36
NG_007554.1:g.11254C>T , LRG_393:g.11254C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.170-34C>T MANE Select ENSP00000228841.8:n.170-34C>T
ENST00000663220.1:c.113-34C>T ENSP00000499568.1:n.113-34C>T
ENST00000228841.12:c.170-34C>T ENSP00000228841.7:n.170-34C>T
ENST00000548438.1:c.94C>T ENSP00000447154.1:p.Leu32Phe
NM_000432.3:c.170-34C>T , LRG_393t1:c.170-34C>T NP_000423.2:n.170-34C>T
NM_000432.4:c.170-34C>T MANE Select NP_000423.2:n.170-34C>T
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