Canonical Allele Identifier: CA179544
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166480
ClinVar RCV Id: RCV000152601 RCV000834972 RCV001826814 RCV002498717 RCV003453128 RCV003888578
dbSNP Id: rs192115090
ExAC: 1:216172258 G / C
gnomAD v2: 1-216172258-G-C
gnomAD v3: 1-215998916-G-C
gnomAD v4: 1-215998916-G-C
MyVariant Identifiers: chr1:g.216172258G>C (hg19) chr1:g.215998916G>C (hg38)
PubMed: PMID:24938718 PMID:25133751
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215998916G>C , CM000663.2:g.215998916G>C GRCh38
NC_000001.10:g.216172258G>C , CM000663.1:g.216172258G>C GRCh37
NC_000001.9:g.214238881G>C NCBI36
NG_009497.1:g.429481C>G
NG_009497.2:g.429533C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.6628C>G MANE Select ENSP00000305941.3:p.Pro2210Ala
ENST00000674083.1:c.6628C>G ENSP00000501296.1:p.Pro2210Ala
ENST00000307340.7:c.6628C>G ENSP00000305941.3:p.Pro2210Ala
NM_206933.2:c.6628C>G NP_996816.2:p.Pro2210Ala
NM_206933.3:c.6628C>G NP_996816.2:p.Pro2210Ala
NM_206933.4:c.6628C>G MANE Select NP_996816.3:p.Pro2210Ala
Search 100 bp 5'
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