Canonical Allele Identifier: CA185733
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 180064
ClinVar RCV Id: RCV000156867 RCV000666306 RCV001278867 RCV003453203
dbSNP Id: rs727505322
gnomAD v3: 1-215728140-T-C
gnomAD v4: 1-215728140-T-C
MyVariant Identifiers: chr1:g.215901482T>C (hg19) chr1:g.215728140T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728140T>C , CM000663.2:g.215728140T>C GRCh38
NC_000001.10:g.215901482T>C , CM000663.1:g.215901482T>C GRCh37
NC_000001.9:g.213968105T>C NCBI36
NG_009497.1:g.700257A>G
NG_009497.2:g.700309A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11956A>G MANE Select ENSP00000305941.3:p.Thr3986Ala
ENST00000674083.1:c.11956A>G ENSP00000501296.1:p.Thr3986Ala
ENST00000307340.7:c.11956A>G ENSP00000305941.3:p.Thr3986Ala
NM_206933.2:c.11956A>G NP_996816.2:p.Thr3986Ala
NM_206933.3:c.11956A>G NP_996816.2:p.Thr3986Ala
NM_206933.4:c.11956A>G MANE Select NP_996816.3:p.Thr3986Ala
Search 100 bp 5'
Search 100 bp 3'