Canonical Allele Identifier: CA010310

Gene: MYL2

Linked Data

• ClinVar Variation Id: 43474
• ClinVar RCV Id: RCV000036403 ; RCV000625191 ; RCV000771118 ; RCV001642556 ; RCV003125848
• dbSNP Id: rs12301951
• ExAC: 12:111357011 G / A
• gnomAD v2: 12-111357011-G-A
• gnomAD v3: 12-110919207-G-A
• gnomAD v4: 12-110919207-G-A
• MyVariant Identifiers: chr12:g.111357011G>A (hg19) ; chr12:g.110919207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110919207G>A , CM000674.2:g.110919207G>A	GRCh38
NC_000012.11:g.111357011G>A , CM000674.1:g.111357011G>A	GRCh37
NC_000012.10:g.109841394G>A	NCBI36
NG_007554.1:g.6371C>T , LRG_393:g.6371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.4-14C>T MANE Select	ENSP00000228841.8:n.4-14C>T
ENST00000663220.1:c.-54-14C>T	ENSP00000499568.1:n.-54-14C>T
ENST00000228841.12:c.4-14C>T	ENSP00000228841.7:n.4-14C>T
ENST00000546404.1:n.197-14C>T
ENST00000548438.1:c.4-14C>T	ENSP00000447154.1:n.4-14C>T
NM_000432.3:c.4-14C>T , LRG_393t1:c.4-14C>T	NP_000423.2:n.4-14C>T
NM_000432.4:c.4-14C>T MANE Select	NP_000423.2:n.4-14C>T