Canonical Allele Identifier: CA2063074983
Community Standard Title: NM_000432.4(MYL2):c.119G= (p.Arg40=)
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110915765C= , CM000674.2:g.110915765C= GRCh38
NC_000012.11:g.111353569C= , CM000674.1:g.111353569C= GRCh37
NC_000012.10:g.109837952C= NCBI36
NG_007554.1:g.9813G= , LRG_393:g.9813G=

Transcript Alleles

HGVS Amino-acid Change
NM_000432.4:c.119G= MANE Select NP_000423.2:p.Arg40=
ENST00000228841.15:c.119G= MANE Select ENSP00000228841.8:p.Arg40=
NM_000432.3:c.119G= , LRG_393t1:c.119G= NP_000423.2:p.Arg40=
ENST00000228841.12:c.119G= ENSP00000228841.7:p.Arg40=
ENST00000548438.1:c.94-1441G= ENSP00000447154.1:n.94-1441G=
ENST00000663220.1:c.62G= ENSP00000499568.1:p.Arg21=