Canonical Allele Identifier: CA37380518
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs184774667
gnomAD v2: 1-215814133-T-C
gnomAD v3: 1-215640791-T-C
gnomAD v4: 1-215640791-T-C
MyVariant Identifiers: chr1:g.215814133T>C (hg19) chr1:g.215640791T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640791T>C , CM000663.2:g.215640791T>C GRCh38
NC_000001.10:g.215814133T>C , CM000663.1:g.215814133T>C GRCh37
NC_000001.9:g.213880756T>C NCBI36
NG_009497.1:g.787606A>G
NG_009497.2:g.787658A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-57A>G MANE Select ENSP00000305941.3:n.14792-57A>G
ENST00000674083.1:c.14792-57A>G ENSP00000501296.1:n.14792-57A>G
ENST00000307340.7:c.14792-57A>G ENSP00000305941.3:n.14792-57A>G
NM_206933.2:c.14792-57A>G NP_996816.2:n.14792-57A>G
NM_206933.3:c.14792-57A>G NP_996816.2:n.14792-57A>G
NM_206933.4:c.14792-57A>G MANE Select NP_996816.3:n.14792-57A>G
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