Canonical Allele Identifier: CA010488
Gene: MYL2 HGNC NCBI
ClinVar RCV:
RCV000015112
RCV000246859
RCV002247340
RCV002504789
ClinVar Variation:
14068
dbSNP:
104894370
gnomAD v4:
chr12-110919145-A-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr12:g.110919145A>G
GRCh37 chr12:g.111356949A>G
Revel Score:
ENST00000228841 (MANE Select) 0.899
ENST00000548438 0.899
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110919145A>G , CM000674.2:g.110919145A>G GRCh38
NC_000012.11:g.111356949A>G , CM000674.1:g.111356949A>G GRCh37
NC_000012.10:g.109841332A>G NCBI36
NG_007554.1:g.6433T>C , LRG_393:g.6433T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.52T>C MANE Select ENSP00000228841.8:p.Phe18Leu
ENST00000663220.1:c.-6T>C ENSP00000499568.1:n.-6T>C
ENST00000228841.12:c.52T>C ENSP00000228841.7:p.Phe18Leu
ENST00000546404.1:n.245T>C
ENST00000548438.1:c.52T>C ENSP00000447154.1:p.Phe18Leu
NM_000432.3:c.52T>C , LRG_393t1:c.52T>C NP_000423.2:p.Phe18Leu
NM_000432.4:c.52T>C MANE Select NP_000423.2:p.Phe18Leu
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