Canonical Allele Identifier: CA010200
Gene: MYL2 HGNC NCBI
ClinVar RCV:
RCV000036397
RCV000770393
RCV001056367
RCV003133123
RCV003996226
ClinVar Variation:
43471
dbSNP:
397516404
gnomAD v4:
chr12-110913140-G-A
Joint Max Group AF 0.0000122 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
MyVariant.info:
GRCh38 chr12:g.110913140G>A
GRCh37 chr12:g.111350944G>A
Revel Score:
ENST00000228841 (MANE Select) 0.447
ENST00000548438 0.447
ENST00000550439 0.447
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913140G>A , CM000674.2:g.110913140G>A GRCh38
NC_000012.11:g.111350944G>A , CM000674.1:g.111350944G>A GRCh37
NC_000012.10:g.109835327G>A NCBI36
NG_007554.1:g.12438C>T , LRG_393:g.12438C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.358C>T MANE Select ENSP00000228841.8:p.Arg120Trp
ENST00000663220.1:c.301C>T ENSP00000499568.1:p.Arg101Trp
ENST00000228841.12:c.358C>T ENSP00000228841.7:p.Arg120Trp
ENST00000548438.1:c.316C>T ENSP00000447154.1:p.Arg106Trp
ENST00000549029.1:n.290C>T
NM_000432.3:c.358C>T , LRG_393t1:c.358C>T NP_000423.2:p.Arg120Trp
NM_000432.4:c.358C>T MANE Select NP_000423.2:p.Arg120Trp
Search 100 bp 5'
Search 100 bp 3'