Canonical Allele Identifier: CA183787

Gene: USH2A

Linked Data

• ClinVar Variation Id: 179132
• ClinVar RCV Id: RCV000155917 ; RCV000666703 ; RCV001074861 ; RCV001227049 ; RCV001376534 ; RCV001273698
• dbSNP Id: rs727504654
• gnomAD v2: 1-215972365-C-A
• gnomAD v3: 1-215799023-C-A
• gnomAD v4: 1-215799023-C-A
• MyVariant Identifiers: chr1:g.215972365C>A (hg19) ; chr1:g.215799023C>A (hg38)
• PubMed: PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799023C>A , CM000663.2:g.215799023C>A	GRCh38
NC_000001.10:g.215972365C>A , CM000663.1:g.215972365C>A	GRCh37
NC_000001.9:g.214038988C>A	NCBI36
NG_009497.1:g.629374G>T
NG_009497.2:g.629426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9842G>T MANE Select	ENSP00000305941.3:p.Cys3281Phe
ENST00000674083.1:c.9842G>T	ENSP00000501296.1:p.Cys3281Phe
ENST00000307340.7:c.9842G>T	ENSP00000305941.3:p.Cys3281Phe
NM_206933.2:c.9842G>T	NP_996816.2:p.Cys3281Phe
NM_206933.3:c.9842G>T	NP_996816.2:p.Cys3281Phe
NM_206933.4:c.9842G>T MANE Select	NP_996816.3:p.Cys3281Phe