Canonical Allele Identifier: CA2063072393
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914200_110914204delinsCCAAA , CM000674.2:g.110914200_110914204delinsCCAAA GRCh38
NC_000012.11:g.111352004_111352008delinsCCAAA , CM000674.1:g.111352004_111352008delinsCCAAA GRCh37
NC_000012.10:g.109836387_109836391delinsCCAAA NCBI36
NG_007554.1:g.11374_11378delinsTTTGG , LRG_393:g.11374_11378delinsTTTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.256_260delinsTTTGG MANE Select ENSP00000228841.8:p.Phe86=
ENST00000663220.1:c.199_203delinsTTTGG ENSP00000499568.1:p.Phe67=
ENST00000228841.12:c.256_260delinsTTTGG ENSP00000228841.7:p.Phe86=
ENST00000548438.1:c.214_218delinsTTTGG ENSP00000447154.1:p.Phe72=
ENST00000549029.1:n.87_91delinsTTTGG
NM_000432.3:c.256_260delinsTTTGG , LRG_393t1:c.256_260delinsTTTGG NP_000423.2:p.Phe86=
NM_000432.4:c.256_260delinsTTTGG MANE Select NP_000423.2:p.Phe86=