Canonical Allele Identifier: CA344845241
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2971417
ClinVar RCV Id: RCV003827599
dbSNP Id: rs1204728952
gnomAD v2: 1-215847817-A-C
MyVariant Identifiers: chr1:g.215847817A>C (hg19) chr1:g.215674475A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674475A>C , CM000663.2:g.215674475A>C GRCh38
NC_000001.10:g.215847817A>C , CM000663.1:g.215847817A>C GRCh37
NC_000001.9:g.213914440A>C NCBI36
NG_009497.1:g.753922T>G
NG_009497.2:g.753974T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13436T>G MANE Select ENSP00000305941.3:p.Leu4479Arg
ENST00000674083.1:c.13436T>G ENSP00000501296.1:p.Leu4479Arg
ENST00000307340.7:c.13436T>G ENSP00000305941.3:p.Leu4479Arg
NM_206933.2:c.13436T>G NP_996816.2:p.Leu4479Arg
NM_206933.3:c.13436T>G NP_996816.2:p.Leu4479Arg
NM_206933.4:c.13436T>G MANE Select NP_996816.3:p.Leu4479Arg
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Search 100 bp 3'