Canonical Allele Identifier: CA323584754

Gene: MYH9

Linked Data

• dbSNP Id: rs982234319
• MyVariant Identifiers: chr22:g.36678014T>A (hg19) ; chr22:g.36281968T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36281968T>A , CM000684.2:g.36281968T>A	GRCh38
NC_000022.10:g.36678014T>A , CM000684.1:g.36678014T>A	GRCh37
NC_000022.9:g.35007960T>A	NCBI36
NG_011884.2:g.111051A>T , LRG_567:g.111051A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685708.1:n.3016A>T
ENST00000685801.1:c.*700A>T	ENSP00000510688.1:n.*700A>T
ENST00000690244.1:n.1919A>T
ENST00000691109.1:n.6878A>T
ENST00000216181.11:c.*700A>T MANE Select	ENSP00000216181.6:n.*700A>T
ENST00000216181.9:c.*700A>T	ENSP00000216181.5:n.*700A>T
NM_002473.5:c.*700A>T , LRG_567t1:c.*700A>T	NP_002464.1:n.*700A>T
XM_011530197.1:c.*700A>T	XP_011528499.1:n.*700A>T
XM_011530197.2:c.*700A>T	XP_011528499.1:n.*700A>T
XM_017028803.1:c.*700A>T	XP_016884292.1:n.*700A>T
XM_017028804.1:c.*700A>T	XP_016884293.1:n.*700A>T
XM_017028805.1:c.*700A>T	XP_016884294.1:n.*700A>T
XM_017028806.1:c.*700A>T	XP_016884295.1:n.*700A>T
NM_002473.6:c.*700A>T MANE Select	NP_002464.1:n.*700A>T