Canonical Allele Identifier: CA2580062165
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2190095
ClinVar RCV Id: RCV002612055
gnomAD v4: 1-215728021-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728021G>A , CM000663.2:g.215728021G>A GRCh38
NC_000001.10:g.215901363G>A , CM000663.1:g.215901363G>A GRCh37
NC_000001.9:g.213967986G>A NCBI36
NG_009497.1:g.700376C>T
NG_009497.2:g.700428C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12066+9C>T MANE Select ENSP00000305941.3:n.12066+9C>T
ENST00000674083.1:c.12066+9C>T ENSP00000501296.1:n.12066+9C>T
ENST00000307340.7:c.12066+9C>T ENSP00000305941.3:n.12066+9C>T
NM_206933.2:c.12066+9C>T NP_996816.2:n.12066+9C>T
NM_206933.3:c.12066+9C>T NP_996816.2:n.12066+9C>T
NM_206933.4:c.12066+9C>T MANE Select NP_996816.3:n.12066+9C>T
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