Canonical Allele Identifier: CA344850530
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 944794
ClinVar RCV Id: RCV001215276 RCV001836158 RCV003449681
dbSNP Id: rs770065010
gnomAD v4: 1-215675325-C-T
MyVariant Identifiers: chr1:g.215848667C>T (hg19) chr1:g.215675325C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675325C>T , CM000663.2:g.215675325C>T GRCh38
NC_000001.10:g.215848667C>T , CM000663.1:g.215848667C>T GRCh37
NC_000001.9:g.213915290C>T NCBI36
NG_009497.1:g.753072G>A
NG_009497.2:g.753124G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12586G>A MANE Select ENSP00000305941.3:p.Glu4196Lys
ENST00000674083.1:c.12586G>A ENSP00000501296.1:p.Glu4196Lys
ENST00000307340.7:c.12586G>A ENSP00000305941.3:p.Glu4196Lys
NM_206933.2:c.12586G>A NP_996816.2:p.Glu4196Lys
NM_206933.3:c.12586G>A NP_996816.2:p.Glu4196Lys
NM_206933.4:c.12586G>A MANE Select NP_996816.3:p.Glu4196Lys
Search 100 bp 5'
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