Canonical Allele Identifier: CA1393144
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs748706981
ExAC: 1:215844292 G / T
gnomAD v2: 1-215844292-G-T
gnomAD v3: 1-215670950-G-T
gnomAD v4: 1-215670950-G-T
MyVariant Identifiers: chr1:g.215844292G>T (hg19) chr1:g.215670950G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215670950G>T , CM000663.2:g.215670950G>T GRCh38
NC_000001.10:g.215844292G>T , CM000663.1:g.215844292G>T GRCh37
NC_000001.9:g.213910915G>T NCBI36
NG_009497.1:g.757447C>A
NG_009497.2:g.757499C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14133+22C>A MANE Select ENSP00000305941.3:n.14133+22C>A
ENST00000674083.1:c.14133+22C>A ENSP00000501296.1:n.14133+22C>A
ENST00000307340.7:c.14133+22C>A ENSP00000305941.3:n.14133+22C>A
NM_206933.2:c.14133+22C>A NP_996816.2:n.14133+22C>A
NM_206933.3:c.14133+22C>A NP_996816.2:n.14133+22C>A
NM_206933.4:c.14133+22C>A MANE Select NP_996816.3:n.14133+22C>A
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