Canonical Allele Identifier: CA612933851

Gene: MYH6

Linked Data

• dbSNP Id: rs1336370341
• gnomAD v2: 14-23865632-G-GC
• gnomAD v4: 14-23396423-G-GC
• MyVariant Identifiers: chr14:g.23865632_23865633insC (hg19) ; chr14:g.23396423_23396424insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23396424dup , CM000676.2:g.23396424dup	GRCh38
NC_000014.8:g.23865633dup , CM000676.1:g.23865633dup	GRCh37
NC_000014.7:g.22935473dup	NCBI36
NG_023444.1:g.16854dup , LRG_389:g.16854dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2293-4dup MANE Select	ENSP00000386041.3:n.2293-4dup
ENST00000356287.3:c.2293-4dup	ENSP00000348634.3:n.2293-4dup
ENST00000405093.7:c.2293-4dup	ENSP00000386041.3:n.2293-4dup
NM_002471.3:c.2293-4dup , LRG_389t1:c.2293-4dup	NP_002462.2:n.2293-4dup
NM_002471.4:c.2293-4dup MANE Select	NP_002462.2:n.2293-4dup