Canonical Allele Identifier: CA010126

Gene: MYL2

Linked Data

• ClinVar Variation Id: 43469
• ClinVar RCV Id: RCV000036395 ; RCV000467703 ; RCV001170436 ; RCV002292460 ; RCV002453304 ; RCV003996225
• dbSNP Id: rs199572927
• ExAC: 12:111351061 C / T
• gnomAD v2: 12-111351061-C-T
• gnomAD v3: 12-110913257-C-T
• gnomAD v4: 12-110913257-C-T
• MyVariant Identifiers: chr12:g.111351061C>T (hg19) ; chr12:g.110913257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110913257C>T , CM000674.2:g.110913257C>T	GRCh38
NC_000012.11:g.111351061C>T , CM000674.1:g.111351061C>T	GRCh37
NC_000012.10:g.109835444C>T	NCBI36
NG_007554.1:g.12321G>A , LRG_393:g.12321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.342G>A MANE Select	ENSP00000228841.8:p.Leu114=
ENST00000663220.1:c.285G>A	ENSP00000499568.1:p.Leu95=
ENST00000228841.12:c.342G>A	ENSP00000228841.7:p.Leu114=
ENST00000548438.1:c.300G>A	ENSP00000447154.1:p.Leu100=
ENST00000549029.1:n.173G>A
NM_000432.3:c.342G>A , LRG_393t1:c.342G>A	NP_000423.2:p.Leu114=
NM_000432.4:c.342G>A MANE Select	NP_000423.2:p.Leu114=