Canonical Allele Identifier: CA10588282
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 265286
ClinVar RCV Id: RCV000255405 RCV001074717 RCV001271235 RCV003454778
dbSNP Id: rs886039449
gnomAD v3: 1-216247090-G-T
gnomAD v4: 1-216247090-G-T
MyVariant Identifiers: chr1:g.216420432G>T (hg19) chr1:g.216247090G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247090G>T , CM000663.2:g.216247090G>T GRCh38
NC_000001.10:g.216420432G>T , CM000663.1:g.216420432G>T GRCh37
NC_000001.9:g.214487055G>T NCBI36
NG_009497.1:g.181307C>A
NG_009497.2:g.181359C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2304C>A MANE Select ENSP00000305941.3:p.Cys768Ter
ENST00000674083.1:c.2304C>A ENSP00000501296.1:p.Cys768Ter
ENST00000307340.7:c.2304C>A ENSP00000305941.3:p.Cys768Ter
ENST00000366942.3:c.2304C>A ENSP00000355909.3:p.Cys768Ter
NM_007123.5:c.2304C>A NP_009054.5:p.Cys768Ter
NM_206933.2:c.2304C>A NP_996816.2:p.Cys768Ter
NM_206933.3:c.2304C>A NP_996816.2:p.Cys768Ter
NM_007123.6:c.2304C>A NP_009054.6:p.Cys768Ter
NM_206933.4:c.2304C>A MANE Select NP_996816.3:p.Cys768Ter
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