Canonical Allele Identifier: CA344827092
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 866748
ClinVar RCV Id: RCV001075028 RCV002554736 RCV003455390
dbSNP Id: rs1661140054
gnomAD v4: 1-215766730-G-T
MyVariant Identifiers: chr1:g.215940072G>T (hg19) chr1:g.215766730G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766730G>T , CM000663.2:g.215766730G>T GRCh38
NC_000001.10:g.215940072G>T , CM000663.1:g.215940072G>T GRCh37
NC_000001.9:g.214006695G>T NCBI36
NG_009497.1:g.661667C>A
NG_009497.2:g.661719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10998C>A MANE Select ENSP00000305941.3:p.Cys3666Ter
ENST00000674083.1:c.10998C>A ENSP00000501296.1:p.Cys3666Ter
ENST00000307340.7:c.10998C>A ENSP00000305941.3:p.Cys3666Ter
NM_206933.2:c.10998C>A NP_996816.2:p.Cys3666Ter
NM_206933.3:c.10998C>A NP_996816.2:p.Cys3666Ter
NM_206933.4:c.10998C>A MANE Select NP_996816.3:p.Cys3666Ter
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