Canonical Allele Identifier: CA423312148
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2887683
ClinVar RCV Id: RCV003722478
gnomAD v4: 1-215766700-T-C
MyVariant Identifiers: chr1:g.215940042T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215766700T>C , CM000663.2:g.215766700T>C GRCh38
NC_000001.10:g.215940042T>C , CM000663.1:g.215940042T>C GRCh37
NC_000001.9:g.214006665T>C NCBI36
NG_009497.1:g.661697A>G
NG_009497.2:g.661749A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11028A>G MANE Select ENSP00000305941.3:p.Thr3676=
ENST00000674083.1:c.11028A>G ENSP00000501296.1:p.Thr3676=
ENST00000307340.7:c.11028A>G ENSP00000305941.3:p.Thr3676=
NM_206933.2:c.11028A>G NP_996816.2:p.Thr3676=
NM_206933.3:c.11028A>G NP_996816.2:p.Thr3676=
NM_206933.4:c.11028A>G MANE Select NP_996816.3:p.Thr3676=
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