Canonical Allele Identifier: CA009871
Gene: MYL2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.110915743G>T
GRCh37 chr12:g.111353547G>T
Revel Score:
ENST00000228841 (MANE Select) 0.158
ENST00000550439 0.158
gnomAD v2:
12:111353547 G / T
gnomAD v3:
12:110915743 G / T
gnomAD v4:
chr12-110915743-G-T
Joint Max Group AF 0.0006379 (NFE)
Genomes Max Group AF 0.00040493 (NFE)
Exomes Max Group AF 0.00064457 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110915743G>T , CM000674.2:g.110915743G>T GRCh38
NC_000012.11:g.111353547G>T , CM000674.1:g.111353547G>T GRCh37
NC_000012.10:g.109837930G>T NCBI36
NG_007554.1:g.9835C>A , LRG_393:g.9835C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.141C>A MANE Select ENSP00000228841.8:p.Asn47Lys
ENST00000663220.1:c.84C>A ENSP00000499568.1:p.Asn28Lys
ENST00000228841.12:c.141C>A ENSP00000228841.7:p.Asn47Lys
ENST00000548438.1:c.94-1419C>A ENSP00000447154.1:n.94-1419C>A
NM_000432.3:c.141C>A , LRG_393t1:c.141C>A NP_000423.2:p.Asn47Lys
NM_000432.4:c.141C>A MANE Select NP_000423.2:p.Asn47Lys
Search 100 bp 5'
Search 100 bp 3'