Canonical Allele Identifier: CA423314938
Gene: USH2A HGNC NCBI

Linked Data

COSMIC: COSM4508239 COSM4508240
MyVariant Identifiers: chr1:g.216062299G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215888957G>A , CM000663.2:g.215888957G>A GRCh38
NC_000001.10:g.216062299G>A , CM000663.1:g.216062299G>A GRCh37
NC_000001.9:g.214128922G>A NCBI36
NG_009497.1:g.539440C>T
NG_009497.2:g.539492C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7692C>T MANE Select ENSP00000305941.3:p.Thr2564=
ENST00000674083.1:c.7692C>T ENSP00000501296.1:p.Thr2564=
ENST00000307340.7:c.7692C>T ENSP00000305941.3:p.Thr2564=
NM_206933.2:c.7692C>T NP_996816.2:p.Thr2564=
NM_206933.3:c.7692C>T NP_996816.2:p.Thr2564=
NM_206933.4:c.7692C>T MANE Select NP_996816.3:p.Thr2564=
Search 100 bp 5'
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