Canonical Allele Identifier: CA646412327
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1353888619
gnomAD v3: 1-215779569-G-GA
gnomAD v4: 1-215779569-G-GA
COSMIC: COSN26152385
MyVariant Identifiers: chr1:g.215952911_215952912insA (hg19) chr1:g.215779569_215779570insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779578dup , CM000663.2:g.215779578dup GRCh38
NC_000001.10:g.215952920dup , CM000663.1:g.215952920dup GRCh37
NC_000001.9:g.214019543dup NCBI36
NG_009497.1:g.648827dup
NG_009497.2:g.648879dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10939+273dup MANE Select ENSP00000305941.3:n.10939+273dup
ENST00000674083.1:c.10939+273dup ENSP00000501296.1:n.10939+273dup
ENST00000307340.7:c.10939+273dup ENSP00000305941.3:n.10939+273dup
NM_206933.2:c.10939+273dup NP_996816.2:n.10939+273dup
NM_206933.3:c.10939+273dup NP_996816.2:n.10939+273dup
NM_206933.4:c.10939+273dup MANE Select NP_996816.3:n.10939+273dup
Search 100 bp 5'
Search 100 bp 3'