Canonical Allele Identifier: CA386696952
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 532776
ClinVar RCV Id: RCV000639675 RCV002223234
dbSNP Id: rs1555257600
gnomAD v3: 12-110911151-G-T
gnomAD v4: 12-110911151-G-T
MyVariant Identifiers: chr12:g.111348955G>T (hg19) chr12:g.110911151G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911151G>T , CM000674.2:g.110911151G>T GRCh38
NC_000012.11:g.111348955G>T , CM000674.1:g.111348955G>T GRCh37
NC_000012.10:g.109833338G>T NCBI36
NG_007554.1:g.14427C>A , LRG_393:g.14427C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.427C>A MANE Select ENSP00000228841.8:p.Pro143Thr
ENST00000663220.1:c.370C>A ENSP00000499568.1:p.Pro124Thr
ENST00000228841.12:c.427C>A ENSP00000228841.7:p.Pro143Thr
ENST00000548438.1:c.385C>A ENSP00000447154.1:p.Pro129Thr
NM_000432.3:c.427C>A , LRG_393t1:c.427C>A NP_000423.2:p.Pro143Thr
NM_000432.4:c.427C>A MANE Select NP_000423.2:p.Pro143Thr
Search 100 bp 5'
Search 100 bp 3'