Canonical Allele Identifier: CA37501658

Gene: USH2A

Linked Data

• ClinVar Variation Id: 556562
• ClinVar RCV Id: RCV000672583 ; RCV001073756 ; RCV001199965 ; RCV001382734 ; RCV002272323 ; RCV003446327
• dbSNP Id: rs993185407
• gnomAD v4: 1-216247228-T-C
• MyVariant Identifiers: chr1:g.216420570T>C (hg19) ; chr1:g.216247228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247228T>C , CM000663.2:g.216247228T>C	GRCh38
NC_000001.10:g.216420570T>C , CM000663.1:g.216420570T>C	GRCh37
NC_000001.9:g.214487193T>C	NCBI36
NG_009497.1:g.181169A>G
NG_009497.2:g.181221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2168-2A>G MANE Select	ENSP00000305941.3:n.2168-2A>G
ENST00000674083.1:c.2168-2A>G	ENSP00000501296.1:n.2168-2A>G
ENST00000307340.7:c.2168-2A>G	ENSP00000305941.3:n.2168-2A>G
ENST00000366942.3:c.2168-2A>G	ENSP00000355909.3:n.2168-2A>G
NM_007123.5:c.2168-2A>G	NP_009054.5:n.2168-2A>G
NM_206933.2:c.2168-2A>G	NP_996816.2:n.2168-2A>G
NM_206933.3:c.2168-2A>G	NP_996816.2:n.2168-2A>G
NM_007123.6:c.2168-2A>G	NP_009054.6:n.2168-2A>G
NM_206933.4:c.2168-2A>G MANE Select	NP_996816.3:n.2168-2A>G