Canonical Allele Identifier: CA386698883
Gene: MYL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914299G>C , CM000674.2:g.110914299G>C GRCh38
NC_000012.11:g.111352103G>C , CM000674.1:g.111352103G>C GRCh37
NC_000012.10:g.109836486G>C NCBI36
NG_007554.1:g.11279C>G , LRG_393:g.11279C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.170-9C>G MANE Select ENSP00000228841.8:n.170-9C>G
ENST00000663220.1:c.113-9C>G ENSP00000499568.1:n.113-9C>G
ENST00000228841.12:c.170-9C>G ENSP00000228841.7:n.170-9C>G
ENST00000548438.1:c.119C>G ENSP00000447154.1:p.Pro40Arg
NM_000432.3:c.170-9C>G , LRG_393t1:c.170-9C>G NP_000423.2:n.170-9C>G
NM_000432.4:c.170-9C>G MANE Select NP_000423.2:n.170-9C>G