Canonical Allele Identifier: CA344834244
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1441700
ClinVar RCV Id: RCV001941320
dbSNP Id: rs993682170
gnomAD v4: 1-215779990-T-G
MyVariant Identifiers: chr1:g.215953332T>G (hg19) chr1:g.215779990T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779990T>G , CM000663.2:g.215779990T>G GRCh38
NC_000001.10:g.215953332T>G , CM000663.1:g.215953332T>G GRCh37
NC_000001.9:g.214019955T>G NCBI36
NG_009497.1:g.648407A>C
NG_009497.2:g.648459A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10792A>C MANE Select ENSP00000305941.3:p.Ile3598Leu
ENST00000674083.1:c.10792A>C ENSP00000501296.1:p.Ile3598Leu
ENST00000307340.7:c.10792A>C ENSP00000305941.3:p.Ile3598Leu
NM_206933.2:c.10792A>C NP_996816.2:p.Ile3598Leu
NM_206933.3:c.10792A>C NP_996816.2:p.Ile3598Leu
NM_206933.4:c.10792A>C MANE Select NP_996816.3:p.Ile3598Leu
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