Canonical Allele Identifier: CA2739275678
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2808153
ClinVar RCV Id: RCV003684707
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680135A>C , CM000663.2:g.215680135A>C GRCh38
NC_000001.10:g.215853477A>C , CM000663.1:g.215853477A>C GRCh37
NC_000001.9:g.213920100A>C NCBI36
NG_009497.1:g.748262T>G
NG_009497.2:g.748314T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12294+14T>G MANE Select ENSP00000305941.3:n.12294+14T>G
ENST00000674083.1:c.12294+14T>G ENSP00000501296.1:n.12294+14T>G
ENST00000307340.7:c.12294+14T>G ENSP00000305941.3:n.12294+14T>G
NM_206933.2:c.12294+14T>G NP_996816.2:n.12294+14T>G
NM_206933.3:c.12294+14T>G NP_996816.2:n.12294+14T>G
NM_206933.4:c.12294+14T>G MANE Select NP_996816.3:n.12294+14T>G
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