Canonical Allele Identifier: CA010193
Gene: MYL2 HGNC NCBI
ClinVar RCV:
RCV000172053
RCV001063811
RCV001180082
RCV002484988
RCV003352788
RCV003998376
ClinVar Variation:
181434
dbSNP:
397516404
gnomAD v2:
12:111350944 G / C
gnomAD v3:
12:110913140 G / C
gnomAD v4:
chr12-110913140-G-C
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
MyVariant.info:
GRCh38 chr12:g.110913140G>C
GRCh37 chr12:g.111350944G>C
Revel Score:
ENST00000228841 (MANE Select) 0.448
ENST00000548438 0.448
ENST00000550439 0.448
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.358C>G MANE Select ENSP00000228841.8:p.Arg120Gly
ENST00000663220.1:c.301C>G ENSP00000499568.1:p.Arg101Gly
ENST00000228841.12:c.358C>G ENSP00000228841.7:p.Arg120Gly
ENST00000548438.1:c.316C>G ENSP00000447154.1:p.Arg106Gly
ENST00000549029.1:n.290C>G
NM_000432.3:c.358C>G , LRG_393t1:c.358C>G NP_000423.2:p.Arg120Gly
NM_000432.4:c.358C>G MANE Select NP_000423.2:p.Arg120Gly
Search 100 bp 5'
Search 100 bp 3'