Canonical Allele Identifier: CA344834352
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1270442078
gnomAD v2: 1-215953346-A-T
gnomAD v4: 1-215780004-A-T
MyVariant Identifiers: chr1:g.215953346A>T (hg19) chr1:g.215780004A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215780004A>T , CM000663.2:g.215780004A>T GRCh38
NC_000001.10:g.215953346A>T , CM000663.1:g.215953346A>T GRCh37
NC_000001.9:g.214019969A>T NCBI36
NG_009497.1:g.648393T>A
NG_009497.2:g.648445T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10778T>A MANE Select ENSP00000305941.3:p.Ile3593Asn
ENST00000674083.1:c.10778T>A ENSP00000501296.1:p.Ile3593Asn
ENST00000307340.7:c.10778T>A ENSP00000305941.3:p.Ile3593Asn
NM_206933.2:c.10778T>A NP_996816.2:p.Ile3593Asn
NM_206933.3:c.10778T>A NP_996816.2:p.Ile3593Asn
NM_206933.4:c.10778T>A MANE Select NP_996816.3:p.Ile3593Asn
Search 100 bp 5'
Search 100 bp 3'