Canonical Allele Identifier: CA386698878
Gene: MYL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914296G>C , CM000674.2:g.110914296G>C GRCh38
NC_000012.11:g.111352100G>C , CM000674.1:g.111352100G>C GRCh37
NC_000012.10:g.109836483G>C NCBI36
NG_007554.1:g.11282C>G , LRG_393:g.11282C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.170-6C>G MANE Select ENSP00000228841.8:n.170-6C>G
ENST00000663220.1:c.113-6C>G ENSP00000499568.1:n.113-6C>G
ENST00000228841.12:c.170-6C>G ENSP00000228841.7:n.170-6C>G
ENST00000548438.1:c.122C>G ENSP00000447154.1:p.Thr41Ser
NM_000432.3:c.170-6C>G , LRG_393t1:c.170-6C>G NP_000423.2:n.170-6C>G
NM_000432.4:c.170-6C>G MANE Select NP_000423.2:n.170-6C>G