Canonical Allele Identifier: CA043539
Gene: MYL2 HGNC NCBI
dbSNP:
104894368
gnomAD v2:
12:111356937 C / G
gnomAD v3:
12:110919133 C / G
gnomAD v4:
chr12-110919133-C-G
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
MyVariant.info:
GRCh38 chr12:g.110919133C>G
GRCh37 chr12:g.111356937C>G
Revel Score:
ENST00000228841 (MANE Select) 0.558
ENST00000548438 0.558
ENST00000550439 0.558
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110919133C>G , CM000674.2:g.110919133C>G GRCh38
NC_000012.11:g.111356937C>G , CM000674.1:g.111356937C>G GRCh37
NC_000012.10:g.109841320C>G NCBI36
NG_007554.1:g.6445G>C , LRG_393:g.6445G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.64G>C MANE Select ENSP00000228841.8:p.Glu22Gln
ENST00000663220.1:c.7G>C ENSP00000499568.1:p.Glu3Gln
ENST00000228841.12:c.64G>C ENSP00000228841.7:p.Glu22Gln
ENST00000546404.1:n.257G>C
ENST00000548438.1:c.64G>C ENSP00000447154.1:p.Glu22Gln
NM_000432.3:c.64G>C , LRG_393t1:c.64G>C NP_000423.2:p.Glu22Gln
NM_000432.4:c.64G>C MANE Select NP_000423.2:p.Glu22Gln
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