Canonical Allele Identifier: CA143255

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48373
• ClinVar RCV Id: RCV001852855 ; RCV002307376
• dbSNP Id: rs111033395
• gnomAD v2: 1-216498651-T-C
• gnomAD v3: 1-216325309-T-C
• gnomAD v4: 1-216325309-T-C
• MyVariant Identifiers: chr1:g.216498651T>C (hg19) ; chr1:g.216325309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325309T>C , CM000663.2:g.216325309T>C	GRCh38
NC_000001.10:g.216498651T>C , CM000663.1:g.216498651T>C	GRCh37
NC_000001.9:g.214565274T>C	NCBI36
NG_009497.1:g.103088A>G
NG_009497.2:g.103140A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1139A>G MANE Select	ENSP00000305941.3:p.Tyr380Cys
ENST00000674083.1:c.1139A>G	ENSP00000501296.1:p.Tyr380Cys
ENST00000307340.7:c.1139A>G	ENSP00000305941.3:p.Tyr380Cys
ENST00000366942.3:c.1139A>G	ENSP00000355909.3:p.Tyr380Cys
NM_007123.5:c.1139A>G	NP_009054.5:p.Tyr380Cys
NM_206933.2:c.1139A>G	NP_996816.2:p.Tyr380Cys
NM_206933.3:c.1139A>G	NP_996816.2:p.Tyr380Cys
NM_007123.6:c.1139A>G	NP_009054.6:p.Tyr380Cys
NM_206933.4:c.1139A>G MANE Select	NP_996816.3:p.Tyr380Cys