Canonical Allele Identifier: CA344845330
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1268135843
gnomAD v3: 1-215674496-C-A
gnomAD v4: 1-215674496-C-A
MyVariant Identifiers: chr1:g.215847838C>A (hg19) chr1:g.215674496C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674496C>A , CM000663.2:g.215674496C>A GRCh38
NC_000001.10:g.215847838C>A , CM000663.1:g.215847838C>A GRCh37
NC_000001.9:g.213914461C>A NCBI36
NG_009497.1:g.753901G>T
NG_009497.2:g.753953G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13415G>T MANE Select ENSP00000305941.3:p.Gly4472Val
ENST00000674083.1:c.13415G>T ENSP00000501296.1:p.Gly4472Val
ENST00000307340.7:c.13415G>T ENSP00000305941.3:p.Gly4472Val
NM_206933.2:c.13415G>T NP_996816.2:p.Gly4472Val
NM_206933.3:c.13415G>T NP_996816.2:p.Gly4472Val
NM_206933.4:c.13415G>T MANE Select NP_996816.3:p.Gly4472Val
Search 100 bp 5'
Search 100 bp 3'