Canonical Allele Identifier: CA2650500297
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215671371-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671371T>G , CM000663.2:g.215671371T>G GRCh38
NC_000001.10:g.215844713T>G , CM000663.1:g.215844713T>G GRCh37
NC_000001.9:g.213911336T>G NCBI36
NG_009497.1:g.757026A>C
NG_009497.2:g.757078A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13812-78A>C MANE Select ENSP00000305941.3:n.13812-78A>C
ENST00000674083.1:c.13812-78A>C ENSP00000501296.1:n.13812-78A>C
ENST00000307340.7:c.13812-78A>C ENSP00000305941.3:n.13812-78A>C
NM_206933.2:c.13812-78A>C NP_996816.2:n.13812-78A>C
NM_206933.3:c.13812-78A>C NP_996816.2:n.13812-78A>C
NM_206933.4:c.13812-78A>C MANE Select NP_996816.3:n.13812-78A>C
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