Canonical Allele Identifier: CA2123419474
Community Standard Title: NM_002471.4(MYH6):c.2033A= (p.Asn678=)
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23397187T= , CM000676.2:g.23397187T= GRCh38
NC_000014.8:g.23866396T= , CM000676.1:g.23866396T= GRCh37
NC_000014.7:g.22936236T= NCBI36
NG_023444.1:g.16091A= , LRG_389:g.16091A=

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.2033A= MANE Select NP_002462.2:p.Asn678=
ENST00000405093.9:c.2033A= MANE Select ENSP00000386041.3:p.Asn678=
NM_002471.3:c.2033A= , LRG_389t1:c.2033A= NP_002462.2:p.Asn678=
ENST00000356287.3:c.2033A= ENSP00000348634.3:p.Asn678=
ENST00000405093.7:c.2033A= ENSP00000386041.3:p.Asn678=