Canonical Allele Identifier: CA411397434
Community Standard Title: NM_002473.6(MYH9):c.2104C>G (p.Arg702Gly)
Gene: MYH9 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_002473.6:c.2104C>G MANE Select NP_002464.1:p.Arg702Gly
ENST00000216181.11:c.2104C>G MANE Select ENSP00000216181.6:p.Arg702Gly
NM_002473.5:c.2104C>G , LRG_567t1:c.2104C>G NP_002464.1:p.Arg702Gly
ENST00000216181.9:c.2104C>G ENSP00000216181.5:p.Arg702Gly
ENST00000685801.1:c.2167C>G ENSP00000510688.1:p.Arg723Gly
ENST00000687922.1:n.440C>G
ENST00000691109.1:n.2399C>G
XM_011530197.1:c.2104C>G XP_011528499.1:p.Arg702Gly
XM_011530197.2:c.2104C>G XP_011528499.1:p.Arg702Gly
XM_017028803.1:c.2104C>G XP_016884292.1:p.Arg702Gly
XM_017028804.1:c.2104C>G XP_016884293.1:p.Arg702Gly
XM_017028805.1:c.2104C>G XP_016884294.1:p.Arg702Gly
XM_017028806.1:c.2104C>G XP_016884295.1:p.Arg702Gly