Canonical Allele Identifier: CA010229
Gene: MYL2 HGNC NCBI
ClinVar RCV:
RCV000036400
RCV000157370
RCV000766480
RCV001238992
RCV003362671
RCV003996227
ClinVar Variation:
43473
dbSNP:
375667565
gnomAD v2:
12:111350928 G / A
gnomAD v3:
12:110913124 G / A
gnomAD v4:
chr12-110913124-G-A
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000381 (NFE)
MyVariant.info:
GRCh38 chr12:g.110913124G>A
GRCh37 chr12:g.111350928G>A
Revel Score:
ENST00000228841 (MANE Select) 0.741
ENST00000548438 0.741
ENST00000550439 0.741
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913124G>A , CM000674.2:g.110913124G>A GRCh38
NC_000012.11:g.111350928G>A , CM000674.1:g.111350928G>A GRCh37
NC_000012.10:g.109835311G>A NCBI36
NG_007554.1:g.12454C>T , LRG_393:g.12454C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.374C>T MANE Select ENSP00000228841.8:p.Thr125Met
ENST00000663220.1:c.317C>T ENSP00000499568.1:p.Thr106Met
ENST00000228841.12:c.374C>T ENSP00000228841.7:p.Thr125Met
ENST00000548438.1:c.332C>T ENSP00000447154.1:p.Thr111Met
NM_000432.3:c.374C>T , LRG_393t1:c.374C>T NP_000423.2:p.Thr125Met
NM_000432.4:c.374C>T MANE Select NP_000423.2:p.Thr125Met
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