Canonical Allele Identifier: CA7114960
Community Standard Title: NM_002471.4(MYH6):c.3979-2A>C
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23389057T>G , CM000676.2:g.23389057T>G GRCh38
NC_000014.8:g.23858266T>G , CM000676.1:g.23858266T>G GRCh37
NC_000014.7:g.22928106T>G NCBI36
NG_023444.1:g.24221A>C , LRG_389:g.24221A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.3979-2A>C MANE Select NP_002462.2:n.3979-2A>C
ENST00000405093.9:c.3979-2A>C MANE Select ENSP00000386041.3:n.3979-2A>C
NM_002471.3:c.3979-2A>C , LRG_389t1:c.3979-2A>C NP_002462.2:n.3979-2A>C
ENST00000356287.3:c.3979-2A>C ENSP00000348634.3:n.3979-2A>C
ENST00000405093.7:c.3979-2A>C ENSP00000386041.3:n.3979-2A>C