Canonical Allele Identifier: CA2650502973
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215779744-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779744T>C , CM000663.2:g.215779744T>C GRCh38
NC_000001.10:g.215953086T>C , CM000663.1:g.215953086T>C GRCh37
NC_000001.9:g.214019709T>C NCBI36
NG_009497.1:g.648653A>G
NG_009497.2:g.648705A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+99A>G MANE Select ENSP00000305941.3:n.10939+99A>G
ENST00000674083.1:c.10939+99A>G ENSP00000501296.1:n.10939+99A>G
ENST00000307340.7:c.10939+99A>G ENSP00000305941.3:n.10939+99A>G
NM_206933.2:c.10939+99A>G NP_996816.2:n.10939+99A>G
NM_206933.3:c.10939+99A>G NP_996816.2:n.10939+99A>G
NM_206933.4:c.10939+99A>G MANE Select NP_996816.3:n.10939+99A>G
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