Canonical Allele Identifier: CA009915

Gene: MYL2

Linked Data

• ClinVar Variation Id: 14067
• ClinVar RCV Id: RCV000015111 ; RCV000157369 ; RCV000158923 ; RCV000621867 ; RCV000844711
• dbSNP Id: rs104894369
• ExAC: 12:111352091 C / T
• gnomAD v2: 12-111352091-C-T
• gnomAD v4: 12-110914287-C-T
• MyVariant Identifiers: chr12:g.111352091C>T (hg19) ; chr12:g.110914287C>T (hg38)
• PubMed: PMID:9535554 ; PMID:11102452 ; PMID:12404107 ; PMID:12707239 ; PMID:12818575 ; PMID:14594949 ; PMID:16837010 ; PMID:18929571 ; PMID:20855589 ; PMID:21723297 ; PMID:21835320 ; PMID:23727233 ; PMID:25351510 ; PMID:26116789 ; PMID:26187847 ; PMID:26914223 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914287C>T , CM000674.2:g.110914287C>T	GRCh38
NC_000012.11:g.111352091C>T , CM000674.1:g.111352091C>T	GRCh37
NC_000012.10:g.109836474C>T	NCBI36
NG_007554.1:g.11291G>A , LRG_393:g.11291G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.173G>A MANE Select	ENSP00000228841.8:p.Arg58Gln
ENST00000663220.1:c.116G>A	ENSP00000499568.1:p.Arg39Gln
ENST00000228841.12:c.173G>A	ENSP00000228841.7:p.Arg58Gln
ENST00000548438.1:c.131G>A	ENSP00000447154.1:p.Arg44Gln
ENST00000549029.1:n.4G>A
NM_000432.3:c.173G>A , LRG_393t1:c.173G>A	NP_000423.2:p.Arg58Gln
NM_000432.4:c.173G>A MANE Select	NP_000423.2:p.Arg58Gln