Canonical Allele Identifier: CA1393587
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs748597740
ExAC: 1:215901443 G / A
gnomAD v2: 1-215901443-G-A
gnomAD v3: 1-215728101-G-A
gnomAD v4: 1-215728101-G-A
COSMIC: COSM1931201 COSM4231246
MyVariant Identifiers: chr1:g.215901443G>A (hg19) chr1:g.215728101G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728101G>A , CM000663.2:g.215728101G>A GRCh38
NC_000001.10:g.215901443G>A , CM000663.1:g.215901443G>A GRCh37
NC_000001.9:g.213968066G>A NCBI36
NG_009497.1:g.700296C>T
NG_009497.2:g.700348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11995C>T MANE Select ENSP00000305941.3:p.Arg3999Cys
ENST00000674083.1:c.11995C>T ENSP00000501296.1:p.Arg3999Cys
ENST00000307340.7:c.11995C>T ENSP00000305941.3:p.Arg3999Cys
NM_206933.2:c.11995C>T NP_996816.2:p.Arg3999Cys
NM_206933.3:c.11995C>T NP_996816.2:p.Arg3999Cys
NM_206933.4:c.11995C>T MANE Select NP_996816.3:p.Arg3999Cys
Search 100 bp 5'
Search 100 bp 3'