Canonical Allele Identifier: CA386699176
Gene: MYL2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.110915721C>G
GRCh37 chr12:g.111353525C>G
Revel Score:
ENST00000228841 (MANE Select) 0.361
ENST00000550439 0.361
gnomAD v2:
12:111353525 C / G
gnomAD v4:
chr12-110915721-C-G
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000988908
ClinVar Variation:
802892
dbSNP:
727504425
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110915721C>G , CM000674.2:g.110915721C>G GRCh38
NC_000012.11:g.111353525C>G , CM000674.1:g.111353525C>G GRCh37
NC_000012.10:g.109837908C>G NCBI36
NG_007554.1:g.9857G>C , LRG_393:g.9857G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.163G>C MANE Select ENSP00000228841.8:p.Ala55Pro
ENST00000663220.1:c.106G>C ENSP00000499568.1:p.Ala36Pro
ENST00000228841.12:c.163G>C ENSP00000228841.7:p.Ala55Pro
ENST00000548438.1:c.94-1397G>C ENSP00000447154.1:n.94-1397G>C
NM_000432.3:c.163G>C , LRG_393t1:c.163G>C NP_000423.2:p.Ala55Pro
NM_000432.4:c.163G>C MANE Select NP_000423.2:p.Ala55Pro
Search 100 bp 5'
Search 100 bp 3'