Canonical Allele Identifier: CA010523

Gene: MYL2

Linked Data

• ClinVar Variation Id: 181426
• ClinVar RCV Id: RCV000158915 ; RCV002362844
• dbSNP Id: rs104894368
• ExAC: 12:111356937 C / A
• gnomAD v2: 12-111356937-C-A
• gnomAD v3: 12-110919133-C-A
• gnomAD v4: 12-110919133-C-A
• MyVariant Identifiers: chr12:g.111356937C>A (hg19) ; chr12:g.110919133C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110919133C>A , CM000674.2:g.110919133C>A	GRCh38
NC_000012.11:g.111356937C>A , CM000674.1:g.111356937C>A	GRCh37
NC_000012.10:g.109841320C>A	NCBI36
NG_007554.1:g.6445G>T , LRG_393:g.6445G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.64G>T MANE Select	ENSP00000228841.8:p.Glu22Ter
ENST00000663220.1:c.7G>T	ENSP00000499568.1:p.Glu3Ter
ENST00000228841.12:c.64G>T	ENSP00000228841.7:p.Glu22Ter
ENST00000546404.1:n.257G>T
ENST00000548438.1:c.64G>T	ENSP00000447154.1:p.Glu22Ter
NM_000432.3:c.64G>T , LRG_393t1:c.64G>T	NP_000423.2:p.Glu22Ter
NM_000432.4:c.64G>T MANE Select	NP_000423.2:p.Glu22Ter