Canonical Allele Identifier: CA243562324
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs758237606
gnomAD v4: 12-110914294-G-C
MyVariant Identifiers: chr12:g.111352098G>C (hg19) chr12:g.110914294G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914294G>C , CM000674.2:g.110914294G>C GRCh38
NC_000012.11:g.111352098G>C , CM000674.1:g.111352098G>C GRCh37
NC_000012.10:g.109836481G>C NCBI36
NG_007554.1:g.11284C>G , LRG_393:g.11284C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.170-4C>G MANE Select ENSP00000228841.8:n.170-4C>G
ENST00000663220.1:c.113-4C>G ENSP00000499568.1:n.113-4C>G
ENST00000228841.12:c.170-4C>G ENSP00000228841.7:n.170-4C>G
ENST00000548438.1:c.124C>G ENSP00000447154.1:p.Leu42Val
NM_000432.3:c.170-4C>G , LRG_393t1:c.170-4C>G NP_000423.2:n.170-4C>G
NM_000432.4:c.170-4C>G MANE Select NP_000423.2:n.170-4C>G
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