Canonical Allele Identifier: CA009898
Gene: MYL2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.110915721C>A
GRCh37 chr12:g.111353525C>A
Revel Score:
ENST00000228841 (MANE Select) 0.255
ENST00000550439 0.255
gnomAD v3:
12:110915721 C / A
gnomAD v4:
chr12-110915721-C-A
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.000008 (AFR)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.163G>T MANE Select ENSP00000228841.8:p.Ala55Ser
ENST00000663220.1:c.106G>T ENSP00000499568.1:p.Ala36Ser
ENST00000228841.12:c.163G>T ENSP00000228841.7:p.Ala55Ser
ENST00000548438.1:c.94-1397G>T ENSP00000447154.1:n.94-1397G>T
NM_000432.3:c.163G>T , LRG_393t1:c.163G>T NP_000423.2:p.Ala55Ser
NM_000432.4:c.163G>T MANE Select NP_000423.2:p.Ala55Ser
Search 100 bp 5'
Search 100 bp 3'