Canonical Allele Identifier: CA2063066395
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1266458
ClinVar RCV Id: RCV001676281
dbSNP Id: rs1592798356
gnomAD v3: 12-110911024-G-C
gnomAD v4: 12-110911024-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911024G>C , CM000674.2:g.110911024G>C GRCh38
NC_000012.11:g.111348828G>C , CM000674.1:g.111348828G>C GRCh37
NC_000012.10:g.109833211G>C NCBI36
NG_007554.1:g.14554C>G , LRG_393:g.14554C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.*53C>G MANE Select ENSP00000228841.8:n.*53C>G
ENST00000663220.1:c.*53C>G ENSP00000499568.1:n.*53C>G
ENST00000228841.12:c.*53C>G ENSP00000228841.7:n.*53C>G
ENST00000548438.1:c.*53C>G ENSP00000447154.1:n.*53C>G
NM_000432.3:c.*53C>G , LRG_393t1:c.*53C>G NP_000423.2:n.*53C>G
NM_000432.4:c.*53C>G MANE Select NP_000423.2:n.*53C>G
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