Canonical Allele Identifier: CA1146458062
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640694C= , CM000663.2:g.215640694C= GRCh38
NC_000001.10:g.215814036C= , CM000663.1:g.215814036C= GRCh37
NC_000001.9:g.213880659C= NCBI36
NG_009497.1:g.787703G=
NG_009497.2:g.787755G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14832G= MANE Select ENSP00000305941.3:p.Leu4944=
ENST00000674083.1:c.14832G= ENSP00000501296.1:p.Leu4944=
ENST00000307340.7:c.14832G= ENSP00000305941.3:p.Leu4944=
NM_206933.2:c.14832G= NP_996816.2:p.Leu4944=
NM_206933.3:c.14832G= NP_996816.2:p.Leu4944=
NM_206933.4:c.14832G= MANE Select NP_996816.3:p.Leu4944=
Search 100 bp 5'
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