Canonical Allele Identifier: CA143607

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48589
• ClinVar RCV Id: RCV000041915 ; RCV001271977 ; RCV000953014 ; RCV003450893
• dbSNP Id: rs56385601
• ExAC: 1:216062306 A / G
• gnomAD v2: 1-216062306-A-G
• gnomAD v3: 1-215888964-A-G
• gnomAD v4: 1-215888964-A-G
• MyVariant Identifiers: chr1:g.216062306A>G (hg19) ; chr1:g.215888964A>G (hg38)
• PubMed: PMID:18273898 ; PMID:19683999 ; PMID:20052763

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215888964A>G , CM000663.2:g.215888964A>G	GRCh38
NC_000001.10:g.216062306A>G , CM000663.1:g.216062306A>G	GRCh37
NC_000001.9:g.214128929A>G	NCBI36
NG_009497.1:g.539433T>C
NG_009497.2:g.539485T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7685T>C MANE Select	ENSP00000305941.3:p.Val2562Ala
ENST00000674083.1:c.7685T>C	ENSP00000501296.1:p.Val2562Ala
ENST00000307340.7:c.7685T>C	ENSP00000305941.3:p.Val2562Ala
NM_206933.2:c.7685T>C	NP_996816.2:p.Val2562Ala
NM_206933.3:c.7685T>C	NP_996816.2:p.Val2562Ala
NM_206933.4:c.7685T>C MANE Select	NP_996816.3:p.Val2562Ala