Canonical Allele Identifier: CA273457

Gene: USH2A

Linked Data

• ClinVar Variation Id: 177760
• ClinVar RCV Id: RCV000411616 ; RCV000410556 ; RCV000824777 ; RCV001073844 ; RCV001054211 ; RCV002505168 ; RCV004544405
• dbSNP Id: rs146733615
• ExAC: 1:215814065 G / A
• gnomAD v2: 1-215814065-G-A
• gnomAD v3: 1-215640723-G-A
• gnomAD v4: 1-215640723-G-A
• COSMIC: COSM1338805
• MyVariant Identifiers: chr1:g.215814065G>A (hg19) ; chr1:g.215640723G>A (hg38)
• PubMed: PMID:17405132 ; PMID:18641288 ; PMID:18665192 ; PMID:18665195 ; PMID:20507924 ; PMID:24498627

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640723G>A , CM000663.2:g.215640723G>A	GRCh38
NC_000001.10:g.215814065G>A , CM000663.1:g.215814065G>A	GRCh37
NC_000001.9:g.213880688G>A	NCBI36
NG_009497.1:g.787674C>T
NG_009497.2:g.787726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14803C>T MANE Select	ENSP00000305941.3:p.Arg4935Ter
ENST00000674083.1:c.14803C>T	ENSP00000501296.1:p.Arg4935Ter
ENST00000307340.7:c.14803C>T	ENSP00000305941.3:p.Arg4935Ter
NM_206933.2:c.14803C>T	NP_996816.2:p.Arg4935Ter
NM_206933.3:c.14803C>T	NP_996816.2:p.Arg4935Ter
NM_206933.4:c.14803C>T MANE Select	NP_996816.3:p.Arg4935Ter