Canonical Allele Identifier: CA344844587
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1657923690
gnomAD v4: 1-215674347-G-A
COSMIC: COSM1636866 COSM4879597
MyVariant Identifiers: chr1:g.215847689G>A (hg19) chr1:g.215674347G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674347G>A , CM000663.2:g.215674347G>A GRCh38
NC_000001.10:g.215847689G>A , CM000663.1:g.215847689G>A GRCh37
NC_000001.9:g.213914312G>A NCBI36
NG_009497.1:g.754050C>T
NG_009497.2:g.754102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13564C>T MANE Select ENSP00000305941.3:p.Leu4522Phe
ENST00000674083.1:c.13564C>T ENSP00000501296.1:p.Leu4522Phe
ENST00000307340.7:c.13564C>T ENSP00000305941.3:p.Leu4522Phe
NM_206933.2:c.13564C>T NP_996816.2:p.Leu4522Phe
NM_206933.3:c.13564C>T NP_996816.2:p.Leu4522Phe
NM_206933.4:c.13564C>T MANE Select NP_996816.3:p.Leu4522Phe
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