Canonical Allele Identifier: CA386700390
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 444868
ClinVar RCV Id: RCV000513098 RCV000639673
dbSNP Id: rs1555258369
gnomAD v3: 12-110920527-C-T
gnomAD v4: 12-110920527-C-T
MyVariant Identifiers: chr12:g.111358331C>T (hg19) chr12:g.110920527C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110920527C>T , CM000674.2:g.110920527C>T GRCh38
NC_000012.11:g.111358331C>T , CM000674.1:g.111358331C>T GRCh37
NC_000012.10:g.109842714C>T NCBI36
NG_007554.1:g.5051G>A , LRG_393:g.5051G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.3G>A MANE Select ENSP00000228841.8:p.Met1Ile
ENST00000663220.1:c.-55+862G>A ENSP00000499568.1:n.-55+862G>A
ENST00000228841.12:c.3G>A ENSP00000228841.7:p.Met1Ile
ENST00000546404.1:n.196G>A
ENST00000548438.1:c.3G>A ENSP00000447154.1:p.Met1Ile
NM_000432.3:c.3G>A , LRG_393t1:c.3G>A NP_000423.2:p.Met1Ile
NM_000432.4:c.3G>A MANE Select NP_000423.2:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'