Canonical Allele Identifier: CA16603530
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 393047
ClinVar RCV Id: RCV000436442 RCV001073896 RCV001828454 RCV003449098
dbSNP Id: rs138866017
gnomAD v3: 1-215675496-C-G
gnomAD v4: 1-215675496-C-G
MyVariant Identifiers: chr1:g.215848838C>G (hg19) chr1:g.215675496C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675496C>G , CM000663.2:g.215675496C>G GRCh38
NC_000001.10:g.215848838C>G , CM000663.1:g.215848838C>G GRCh37
NC_000001.9:g.213915461C>G NCBI36
NG_009497.1:g.752901G>C
NG_009497.2:g.752953G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12415G>C MANE Select ENSP00000305941.3:p.Gly4139Arg
ENST00000674083.1:c.12415G>C ENSP00000501296.1:p.Gly4139Arg
ENST00000307340.7:c.12415G>C ENSP00000305941.3:p.Gly4139Arg
NM_206933.2:c.12415G>C NP_996816.2:p.Gly4139Arg
NM_206933.3:c.12415G>C NP_996816.2:p.Gly4139Arg
NM_206933.4:c.12415G>C MANE Select NP_996816.3:p.Gly4139Arg
Search 100 bp 5'
Search 100 bp 3'