Canonical Allele Identifier: CA2698060343
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2102671605
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680103A>G , CM000663.2:g.215680103A>G GRCh38
NC_000001.10:g.215853445A>G , CM000663.1:g.215853445A>G GRCh37
NC_000001.9:g.213920068A>G NCBI36
NG_009497.1:g.748294T>C
NG_009497.2:g.748346T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12294+46T>C MANE Select ENSP00000305941.3:n.12294+46T>C
ENST00000674083.1:c.12294+46T>C ENSP00000501296.1:n.12294+46T>C
ENST00000307340.7:c.12294+46T>C ENSP00000305941.3:n.12294+46T>C
NM_206933.2:c.12294+46T>C NP_996816.2:n.12294+46T>C
NM_206933.3:c.12294+46T>C NP_996816.2:n.12294+46T>C
NM_206933.4:c.12294+46T>C MANE Select NP_996816.3:n.12294+46T>C
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