Canonical Allele Identifier: CA262130

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48624
• ClinVar RCV Id: RCV000041950 ; RCV000726813 ; RCV001002711 ; RCV001376451
• dbSNP Id: rs41308425
• ExAC: 1:216011332 C / G
• gnomAD v2: 1-216011332-C-G
• gnomAD v4: 1-215837990-C-G
• MyVariant Identifiers: chr1:g.216011332C>G (hg19) ; chr1:g.215837990C>G (hg38)
• PubMed: PMID:22135276 ; PMID:25425308 ; PMID:25649381 ; PMID:26377068

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215837990C>G , CM000663.2:g.215837990C>G	GRCh38
NC_000001.10:g.216011332C>G , CM000663.1:g.216011332C>G	GRCh37
NC_000001.9:g.214077955C>G	NCBI36
NG_009497.1:g.590407G>C
NG_009497.2:g.590459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9371+1G>C MANE Select	ENSP00000305941.3:n.9371+1G>C
ENST00000674083.1:c.9371+1G>C	ENSP00000501296.1:n.9371+1G>C
ENST00000307340.7:c.9371+1G>C	ENSP00000305941.3:n.9371+1G>C
NM_206933.2:c.9371+1G>C	NP_996816.2:n.9371+1G>C
NM_206933.3:c.9371+1G>C	NP_996816.2:n.9371+1G>C
NM_206933.4:c.9371+1G>C MANE Select	NP_996816.3:n.9371+1G>C