Canonical Allele Identifier: CA009962
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 181432
ClinVar RCV Id: RCV000158925 RCV001180080 RCV001370474 RCV002247553 RCV002426780 RCV003998374
dbSNP Id: rs730880950
ExAC: 12:111352007 A / G
gnomAD v2: 12-111352007-A-G
gnomAD v3: 12-110914203-A-G
gnomAD v4: 12-110914203-A-G
MyVariant Identifiers: chr12:g.111352007A>G (hg19) chr12:g.110914203A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914203A>G , CM000674.2:g.110914203A>G GRCh38
NC_000012.11:g.111352007A>G , CM000674.1:g.111352007A>G GRCh37
NC_000012.10:g.109836390A>G NCBI36
NG_007554.1:g.11375T>C , LRG_393:g.11375T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.257T>C MANE Select ENSP00000228841.8:p.Phe86Ser
ENST00000663220.1:c.200T>C ENSP00000499568.1:p.Phe67Ser
ENST00000228841.12:c.257T>C ENSP00000228841.7:p.Phe86Ser
ENST00000548438.1:c.215T>C ENSP00000447154.1:p.Phe72Ser
ENST00000549029.1:n.88T>C
NM_000432.3:c.257T>C , LRG_393t1:c.257T>C NP_000423.2:p.Phe86Ser
NM_000432.4:c.257T>C MANE Select NP_000423.2:p.Phe86Ser
Search 100 bp 5'
Search 100 bp 3'