Canonical Allele Identifier: CA2063066592
Community Standard Title: NM_000432.4(MYL2):c.488A= (p.Glu163=)
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911090T= , CM000674.2:g.110911090T= GRCh38
NC_000012.11:g.111348894T= , CM000674.1:g.111348894T= GRCh37
NC_000012.10:g.109833277T= NCBI36
NG_007554.1:g.14488A= , LRG_393:g.14488A=

Transcript Alleles

HGVS Amino-acid Change
NM_000432.4:c.488A= MANE Select NP_000423.2:p.Glu163=
ENST00000228841.15:c.488A= MANE Select ENSP00000228841.8:p.Glu163=
NM_000432.3:c.488A= , LRG_393t1:c.488A= NP_000423.2:p.Glu163=
ENST00000228841.12:c.488A= ENSP00000228841.7:p.Glu163=
ENST00000548438.1:c.446A= ENSP00000447154.1:p.Glu149=
ENST00000663220.1:c.431A= ENSP00000499568.1:p.Glu144=