Canonical Allele Identifier: CA481750992
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1151175
ClinVar RCV Id: RCV001492018
dbSNP Id: rs1187321974
gnomAD v3: 12-110914196-C-T
gnomAD v4: 12-110914196-C-T
MyVariant Identifiers: chr12:g.111352000C>T (hg19) chr12:g.110914196C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914196C>T , CM000674.2:g.110914196C>T GRCh38
NC_000012.11:g.111352000C>T , CM000674.1:g.111352000C>T GRCh37
NC_000012.10:g.109836383C>T NCBI36
NG_007554.1:g.11382G>A , LRG_393:g.11382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.264G>A MANE Select ENSP00000228841.8:p.Glu88=
ENST00000663220.1:c.207G>A ENSP00000499568.1:p.Glu69=
ENST00000228841.12:c.264G>A ENSP00000228841.7:p.Glu88=
ENST00000548438.1:c.222G>A ENSP00000447154.1:p.Glu74=
ENST00000549029.1:n.95G>A
NM_000432.3:c.264G>A , LRG_393t1:c.264G>A NP_000423.2:p.Glu88=
NM_000432.4:c.264G>A MANE Select NP_000423.2:p.Glu88=
Search 100 bp 5'
Search 100 bp 3'