Canonical Allele Identifier: CA041718
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs780439833
ExAC: 12:111351067 C / A
gnomAD v2: 12-111351067-C-A
gnomAD v4: 12-110913263-C-A
MyVariant Identifiers: chr12:g.111351067C>A (hg19) chr12:g.110913263C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913263C>A , CM000674.2:g.110913263C>A GRCh38
NC_000012.11:g.111351067C>A , CM000674.1:g.111351067C>A GRCh37
NC_000012.10:g.109835450C>A NCBI36
NG_007554.1:g.12315G>T , LRG_393:g.12315G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.336G>T MANE Select ENSP00000228841.8:p.Gly112=
ENST00000663220.1:c.279G>T ENSP00000499568.1:p.Gly93=
ENST00000228841.12:c.336G>T ENSP00000228841.7:p.Gly112=
ENST00000548438.1:c.294G>T ENSP00000447154.1:p.Gly98=
ENST00000549029.1:n.167G>T
NM_000432.3:c.336G>T , LRG_393t1:c.336G>T NP_000423.2:p.Gly112=
NM_000432.4:c.336G>T MANE Select NP_000423.2:p.Gly112=
Search 100 bp 5'
Search 100 bp 3'