Canonical Allele Identifier: CA010211
Gene: MYL2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.110913139C>T
GRCh37 chr12:g.111350943C>T
Revel Score:
ENST00000228841 (MANE Select) 0.479
ENST00000548438 0.479
ENST00000550439 0.479
gnomAD v2:
12:111350943 C / T
gnomAD v3:
12:110913139 C / T
gnomAD v4:
chr12-110913139-C-T
Joint Max Group AF 0.00019373 (AMR)
Genomes Max Group AF 0.00016991 (AMR)
Exomes Max Group AF 0.00015445 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913139C>T , CM000674.2:g.110913139C>T GRCh38
NC_000012.11:g.111350943C>T , CM000674.1:g.111350943C>T GRCh37
NC_000012.10:g.109835326C>T NCBI36
NG_007554.1:g.12439G>A , LRG_393:g.12439G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.359G>A MANE Select ENSP00000228841.8:p.Arg120Gln
ENST00000663220.1:c.302G>A ENSP00000499568.1:p.Arg101Gln
ENST00000228841.12:c.359G>A ENSP00000228841.7:p.Arg120Gln
ENST00000548438.1:c.317G>A ENSP00000447154.1:p.Arg106Gln
ENST00000549029.1:n.291G>A
NM_000432.3:c.359G>A , LRG_393t1:c.359G>A NP_000423.2:p.Arg120Gln
NM_000432.4:c.359G>A MANE Select NP_000423.2:p.Arg120Gln
Search 100 bp 5'
Search 100 bp 3'