Canonical Allele Identifier: CA344864848
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.216420320T>G (hg19) chr1:g.216246978T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2416A>C MANE Select ENSP00000305941.3:p.Thr806Pro
ENST00000674083.1:c.2416A>C ENSP00000501296.1:p.Thr806Pro
ENST00000307340.7:c.2416A>C ENSP00000305941.3:p.Thr806Pro
ENST00000366942.3:c.2416A>C ENSP00000355909.3:p.Thr806Pro
NM_007123.5:c.2416A>C NP_009054.5:p.Thr806Pro
NM_206933.2:c.2416A>C NP_996816.2:p.Thr806Pro
NM_206933.3:c.2416A>C NP_996816.2:p.Thr806Pro
NM_007123.6:c.2416A>C NP_009054.6:p.Thr806Pro
NM_206933.4:c.2416A>C MANE Select NP_996816.3:p.Thr806Pro
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