Canonical Allele Identifier: CA2697554904
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2771411
ClinVar RCV Id: RCV003574258
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675628C>T , CM000663.2:g.215675628C>T GRCh38
NC_000001.10:g.215848970C>T , CM000663.1:g.215848970C>T GRCh37
NC_000001.9:g.213915593C>T NCBI36
NG_009497.1:g.752769G>A
NG_009497.2:g.752821G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-12G>A MANE Select ENSP00000305941.3:n.12295-12G>A
ENST00000674083.1:c.12295-12G>A ENSP00000501296.1:n.12295-12G>A
ENST00000307340.7:c.12295-12G>A ENSP00000305941.3:n.12295-12G>A
NM_206933.2:c.12295-12G>A NP_996816.2:n.12295-12G>A
NM_206933.3:c.12295-12G>A NP_996816.2:n.12295-12G>A
NM_206933.4:c.12295-12G>A MANE Select NP_996816.3:n.12295-12G>A
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