Canonical Allele Identifier: CA16043807
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 374593
ClinVar RCV Id: RCV000415731
dbSNP Id: rs1057519163
gnomAD v2: 1-216420320-T-C
gnomAD v4: 1-216246978-T-C
MyVariant Identifiers: chr1:g.216420320T>C (hg19) chr1:g.216246978T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216246978T>C , CM000663.2:g.216246978T>C GRCh38
NC_000001.10:g.216420320T>C , CM000663.1:g.216420320T>C GRCh37
NC_000001.9:g.214486943T>C NCBI36
NG_009497.1:g.181419A>G
NG_009497.2:g.181471A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2416A>G MANE Select ENSP00000305941.3:p.Thr806Ala
ENST00000674083.1:c.2416A>G ENSP00000501296.1:p.Thr806Ala
ENST00000307340.7:c.2416A>G ENSP00000305941.3:p.Thr806Ala
ENST00000366942.3:c.2416A>G ENSP00000355909.3:p.Thr806Ala
NM_007123.5:c.2416A>G NP_009054.5:p.Thr806Ala
NM_206933.2:c.2416A>G NP_996816.2:p.Thr806Ala
NM_206933.3:c.2416A>G NP_996816.2:p.Thr806Ala
NM_007123.6:c.2416A>G NP_009054.6:p.Thr806Ala
NM_206933.4:c.2416A>G MANE Select NP_996816.3:p.Thr806Ala
Search 100 bp 5'
Search 100 bp 3'