Canonical Allele Identifier: CA042029

Gene: MYL2

Linked Data

• ClinVar Variation Id: 671321
• ClinVar RCV Id: RCV000830505 ; RCV001724167
• dbSNP Id: rs2233260
• ExAC: 12:111350999 G / T
• gnomAD v2: 12-111350999-G-T
• gnomAD v3: 12-110913195-G-T
• gnomAD v4: 12-110913195-G-T
• MyVariant Identifiers: chr12:g.111350999G>T (hg19) ; chr12:g.110913195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110913195G>T , CM000674.2:g.110913195G>T	GRCh38
NC_000012.11:g.111350999G>T , CM000674.1:g.111350999G>T	GRCh37
NC_000012.10:g.109835382G>T	NCBI36
NG_007554.1:g.12383C>A , LRG_393:g.12383C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.354-51C>A MANE Select	ENSP00000228841.8:n.354-51C>A
ENST00000663220.1:c.297-51C>A	ENSP00000499568.1:n.297-51C>A
ENST00000228841.12:c.354-51C>A	ENSP00000228841.7:n.354-51C>A
ENST00000548438.1:c.312-51C>A	ENSP00000447154.1:n.312-51C>A
ENST00000549029.1:n.235C>A
NM_000432.3:c.354-51C>A , LRG_393t1:c.354-51C>A	NP_000423.2:n.354-51C>A
NM_000432.4:c.354-51C>A MANE Select	NP_000423.2:n.354-51C>A