Canonical Allele Identifier: CA15763766
Gene: MYL2 HGNC NCBI
ClinVar RCV:
RCV001666689
ClinVar Variation:
1259772
dbSNP:
3782889
gnomAD v2:
12:111350655 A / G
gnomAD v3:
12:110912851 A / G
gnomAD v4:
chr12-110912851-A-G
Joint Max Group AF 0.20141429 (EAS)
Genomes Max Group AF 0.20141429 (EAS)
MyVariant.info:
GRCh38 chr12:g.110912851A>G
GRCh37 chr12:g.111350655A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110912851A>G , CM000674.2:g.110912851A>G GRCh38
NC_000012.11:g.111350655A>G , CM000674.1:g.111350655A>G GRCh37
NC_000012.10:g.109835038A>G NCBI36
NG_007554.1:g.12727T>C , LRG_393:g.12727T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.402+245T>C MANE Select ENSP00000228841.8:n.402+245T>C
ENST00000663220.1:c.345+245T>C ENSP00000499568.1:n.345+245T>C
ENST00000228841.12:c.402+245T>C ENSP00000228841.7:n.402+245T>C
ENST00000548438.1:c.360+245T>C ENSP00000447154.1:n.360+245T>C
NM_000432.3:c.402+245T>C , LRG_393t1:c.402+245T>C NP_000423.2:n.402+245T>C
NM_000432.4:c.402+245T>C MANE Select NP_000423.2:n.402+245T>C
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