Canonical Allele Identifier: CA481750991
Gene: MYL2 HGNC NCBI

Linked Data

gnomAD v4: 12-110914193-T-C
MyVariant Identifiers: chr12:g.111351997T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914193T>C , CM000674.2:g.110914193T>C GRCh38
NC_000012.11:g.111351997T>C , CM000674.1:g.111351997T>C GRCh37
NC_000012.10:g.109836380T>C NCBI36
NG_007554.1:g.11385A>G , LRG_393:g.11385A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.267A>G MANE Select ENSP00000228841.8:p.Lys89=
ENST00000663220.1:c.210A>G ENSP00000499568.1:p.Lys70=
ENST00000228841.12:c.267A>G ENSP00000228841.7:p.Lys89=
ENST00000548438.1:c.225A>G ENSP00000447154.1:p.Lys75=
ENST00000549029.1:n.98A>G
NM_000432.3:c.267A>G , LRG_393t1:c.267A>G NP_000423.2:p.Lys89=
NM_000432.4:c.267A>G MANE Select NP_000423.2:p.Lys89=
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