Canonical Allele Identifier: CA10209965
Community Standard Title: NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36302663G>A , CM000684.2:g.36302663G>A GRCh38
NC_000022.10:g.36698709G>A , CM000684.1:g.36698709G>A GRCh37
NC_000022.9:g.35028655G>A NCBI36
NG_011884.2:g.90356C>T , LRG_567:g.90356C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.2404C>T MANE Select NP_002464.1:p.Arg802Trp
ENST00000216181.11:c.2404C>T MANE Select ENSP00000216181.6:p.Arg802Trp
NM_002473.5:c.2404C>T , LRG_567t1:c.2404C>T NP_002464.1:p.Arg802Trp
ENST00000216181.9:c.2404C>T ENSP00000216181.5:p.Arg802Trp
ENST00000473022.1:n.45C>T
ENST00000685801.1:c.2467C>T ENSP00000510688.1:p.Arg823Trp
ENST00000691109.1:n.2699C>T
XM_011530197.1:c.2404C>T XP_011528499.1:p.Arg802Trp
XM_011530197.2:c.2404C>T XP_011528499.1:p.Arg802Trp
XM_017028803.1:c.2404C>T XP_016884292.1:p.Arg802Trp
XM_017028804.1:c.2404C>T XP_016884293.1:p.Arg802Trp
XM_017028805.1:c.2404C>T XP_016884294.1:p.Arg802Trp
XM_017028806.1:c.2404C>T XP_016884295.1:p.Arg802Trp