Canonical Allele Identifier: CA344824073

Gene: USH2A

Linked Data

• gnomAD v4: 1-215817016-C-A
• MyVariant Identifiers: chr1:g.215990358C>A (hg19) ; chr1:g.215817016C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817016C>A , CM000663.2:g.215817016C>A	GRCh38
NC_000001.10:g.215990358C>A , CM000663.1:g.215990358C>A	GRCh37
NC_000001.9:g.214056981C>A	NCBI36
NG_009497.1:g.611381G>T
NG_009497.2:g.611433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9551G>T MANE Select	ENSP00000305941.3:p.Cys3184Phe
ENST00000674083.1:c.9551G>T	ENSP00000501296.1:p.Cys3184Phe
ENST00000307340.7:c.9551G>T	ENSP00000305941.3:p.Cys3184Phe
NM_206933.2:c.9551G>T	NP_996816.2:p.Cys3184Phe
NM_206933.3:c.9551G>T	NP_996816.2:p.Cys3184Phe
NM_206933.4:c.9551G>T MANE Select	NP_996816.3:p.Cys3184Phe