Canonical Allele Identifier: CA37921745
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2725134
ClinVar RCV Id: RCV003554463
dbSNP Id: rs553450594
gnomAD v3: 1-216418595-T-G
gnomAD v4: 1-216418595-T-G
MyVariant Identifiers: chr1:g.216591937T>G (hg19) chr1:g.216418595T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418595T>G , CM000663.2:g.216418595T>G GRCh38
NC_000001.10:g.216591937T>G , CM000663.1:g.216591937T>G GRCh37
NC_000001.9:g.214658560T>G NCBI36
NG_009497.1:g.9802A>C
NG_009497.2:g.9854A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.570A>C MANE Select ENSP00000305941.3:p.Thr190=
ENST00000674083.1:c.570A>C ENSP00000501296.1:p.Thr190=
ENST00000307340.7:c.570A>C ENSP00000305941.3:p.Thr190=
ENST00000366942.3:c.570A>C ENSP00000355909.3:p.Thr190=
NM_007123.5:c.570A>C NP_009054.5:p.Thr190=
NM_206933.2:c.570A>C NP_996816.2:p.Thr190=
NM_206933.3:c.570A>C NP_996816.2:p.Thr190=
NM_007123.6:c.570A>C NP_009054.6:p.Thr190=
NM_206933.4:c.570A>C MANE Select NP_996816.3:p.Thr190=
Search 100 bp 5'
Search 100 bp 3'