Canonical Allele Identifier: CA042956
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs762258262
ExAC: 12:111348839 A / G
gnomAD v2: 12-111348839-A-G
gnomAD v4: 12-110911035-A-G
MyVariant Identifiers: chr12:g.111348839A>G (hg19) chr12:g.110911035A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911035A>G , CM000674.2:g.110911035A>G GRCh38
NC_000012.11:g.111348839A>G , CM000674.1:g.111348839A>G GRCh37
NC_000012.10:g.109833222A>G NCBI36
NG_007554.1:g.14543T>C , LRG_393:g.14543T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.*42T>C MANE Select ENSP00000228841.8:n.*42T>C
ENST00000663220.1:c.*42T>C ENSP00000499568.1:n.*42T>C
ENST00000228841.12:c.*42T>C ENSP00000228841.7:n.*42T>C
ENST00000548438.1:c.*42T>C ENSP00000447154.1:n.*42T>C
NM_000432.3:c.*42T>C , LRG_393t1:c.*42T>C NP_000423.2:n.*42T>C
NM_000432.4:c.*42T>C MANE Select NP_000423.2:n.*42T>C
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