Canonical Allele Identifier: CA344863771
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2155921
ClinVar RCV Id: RCV003075197
dbSNP Id: rs1305677506
gnomAD v3: 1-216175381-A-G
gnomAD v4: 1-216175381-A-G
MyVariant Identifiers: chr1:g.216348723A>G (hg19) chr1:g.216175381A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216175381A>G , CM000663.2:g.216175381A>G GRCh38
NC_000001.10:g.216348723A>G , CM000663.1:g.216348723A>G GRCh37
NC_000001.9:g.214415346A>G NCBI36
NG_009497.1:g.253016T>C
NG_009497.2:g.253068T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4498T>C MANE Select ENSP00000305941.3:p.Tyr1500His
ENST00000674083.1:c.4498T>C ENSP00000501296.1:p.Tyr1500His
ENST00000307340.7:c.4498T>C ENSP00000305941.3:p.Tyr1500His
ENST00000366942.3:c.4498T>C ENSP00000355909.3:p.Tyr1500His
NM_007123.5:c.4498T>C NP_009054.5:p.Tyr1500His
NM_206933.2:c.4498T>C NP_996816.2:p.Tyr1500His
NM_206933.3:c.4498T>C NP_996816.2:p.Tyr1500His
NM_007123.6:c.4498T>C NP_009054.6:p.Tyr1500His
NM_206933.4:c.4498T>C MANE Select NP_996816.3:p.Tyr1500His
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