Canonical Allele Identifier: CA043167
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs776941988
ExAC: 12:111348837 C / T
gnomAD v2: 12-111348837-C-T
gnomAD v3: 12-110911033-C-T
gnomAD v4: 12-110911033-C-T
MyVariant Identifiers: chr12:g.111348837C>T (hg19) chr12:g.110911033C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911033C>T , CM000674.2:g.110911033C>T GRCh38
NC_000012.11:g.111348837C>T , CM000674.1:g.111348837C>T GRCh37
NC_000012.10:g.109833220C>T NCBI36
NG_007554.1:g.14545G>A , LRG_393:g.14545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.*44G>A MANE Select ENSP00000228841.8:n.*44G>A
ENST00000663220.1:c.*44G>A ENSP00000499568.1:n.*44G>A
ENST00000228841.12:c.*44G>A ENSP00000228841.7:n.*44G>A
ENST00000548438.1:c.*44G>A ENSP00000447154.1:n.*44G>A
NM_000432.3:c.*44G>A , LRG_393t1:c.*44G>A NP_000423.2:n.*44G>A
NM_000432.4:c.*44G>A MANE Select NP_000423.2:n.*44G>A
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