Canonical Allele Identifier: CA1012185421
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1656663796
gnomAD v3: 1-215640923-A-G
gnomAD v4: 1-215640923-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640923A>G , CM000663.2:g.215640923A>G GRCh38
NC_000001.10:g.215814265A>G , CM000663.1:g.215814265A>G GRCh37
NC_000001.9:g.213880888A>G NCBI36
NG_009497.1:g.787474T>C
NG_009497.2:g.787526T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-189T>C MANE Select ENSP00000305941.3:n.14792-189T>C
ENST00000674083.1:c.14792-189T>C ENSP00000501296.1:n.14792-189T>C
ENST00000307340.7:c.14792-189T>C ENSP00000305941.3:n.14792-189T>C
NM_206933.2:c.14792-189T>C NP_996816.2:n.14792-189T>C
NM_206933.3:c.14792-189T>C NP_996816.2:n.14792-189T>C
NM_206933.4:c.14792-189T>C MANE Select NP_996816.3:n.14792-189T>C
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