Canonical Allele Identifier: CA2063079240
Community Standard Title: NM_000432.4(MYL2):c.37G= (p.Ala13=)
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110919160C= , CM000674.2:g.110919160C= GRCh38
NC_000012.11:g.111356964C= , CM000674.1:g.111356964C= GRCh37
NC_000012.10:g.109841347C= NCBI36
NG_007554.1:g.6418G= , LRG_393:g.6418G=

Transcript Alleles

HGVS Amino-acid Change
NM_000432.4:c.37G= MANE Select NP_000423.2:p.Ala13=
ENST00000228841.15:c.37G= MANE Select ENSP00000228841.8:p.Ala13=
NM_000432.3:c.37G= , LRG_393t1:c.37G= NP_000423.2:p.Ala13=
ENST00000228841.12:c.37G= ENSP00000228841.7:p.Ala13=
ENST00000546404.1:n.230G=
ENST00000548438.1:c.37G= ENSP00000447154.1:p.Ala13=
ENST00000663220.1:c.-21G= ENSP00000499568.1:n.-21G=