Canonical Allele Identifier: CA2403806732
Community Standard Title: NM_002473.6(MYH9):c.2104C= (p.Arg702=)
Gene: MYH9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36305985G= , CM000684.2:g.36305985G= GRCh38
NC_000022.10:g.36702031G= , CM000684.1:g.36702031G= GRCh37
NC_000022.9:g.35031977G= NCBI36
NG_011884.2:g.87034C= , LRG_567:g.87034C=

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.2104C= MANE Select NP_002464.1:p.Arg702=
ENST00000216181.11:c.2104C= MANE Select ENSP00000216181.6:p.Arg702=
NM_002473.5:c.2104C= , LRG_567t1:c.2104C= NP_002464.1:p.Arg702=
ENST00000216181.9:c.2104C= ENSP00000216181.5:p.Arg702=
ENST00000685801.1:c.2167C= ENSP00000510688.1:p.Arg723=
ENST00000687922.1:n.440C=
ENST00000691109.1:n.2399C=
XM_011530197.1:c.2104C= XP_011528499.1:p.Arg702=
XM_011530197.2:c.2104C= XP_011528499.1:p.Arg702=
XM_017028803.1:c.2104C= XP_016884292.1:p.Arg702=
XM_017028804.1:c.2104C= XP_016884293.1:p.Arg702=
XM_017028805.1:c.2104C= XP_016884294.1:p.Arg702=
XM_017028806.1:c.2104C= XP_016884295.1:p.Arg702=