Canonical Allele Identifier: CA243562449
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs755051142
gnomAD v3: 12-110914397-T-G
gnomAD v4: 12-110914397-T-G
MyVariant Identifiers: chr12:g.111352201T>G (hg19) chr12:g.110914397T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914397T>G , CM000674.2:g.110914397T>G GRCh38
NC_000012.11:g.111352201T>G , CM000674.1:g.111352201T>G GRCh37
NC_000012.10:g.109836584T>G NCBI36
NG_007554.1:g.11181A>C , LRG_393:g.11181A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.170-107A>C MANE Select ENSP00000228841.8:n.170-107A>C
ENST00000663220.1:c.113-107A>C ENSP00000499568.1:n.113-107A>C
ENST00000228841.12:c.170-107A>C ENSP00000228841.7:n.170-107A>C
ENST00000548438.1:c.94-73A>C ENSP00000447154.1:n.94-73A>C
NM_000432.3:c.170-107A>C , LRG_393t1:c.170-107A>C NP_000423.2:n.170-107A>C
NM_000432.4:c.170-107A>C MANE Select NP_000423.2:n.170-107A>C
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