Canonical Allele Identifier: CA344864927
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1725603
ClinVar RCV Id: RCV002309287
MyVariant Identifiers: chr1:g.216420359T>A (hg19) chr1:g.216247017T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247017T>A , CM000663.2:g.216247017T>A GRCh38
NC_000001.10:g.216420359T>A , CM000663.1:g.216420359T>A GRCh37
NC_000001.9:g.214486982T>A NCBI36
NG_009497.1:g.181380A>T
NG_009497.2:g.181432A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2377A>T MANE Select ENSP00000305941.3:p.Lys793Ter
ENST00000674083.1:c.2377A>T ENSP00000501296.1:p.Lys793Ter
ENST00000307340.7:c.2377A>T ENSP00000305941.3:p.Lys793Ter
ENST00000366942.3:c.2377A>T ENSP00000355909.3:p.Lys793Ter
NM_007123.5:c.2377A>T NP_009054.5:p.Lys793Ter
NM_206933.2:c.2377A>T NP_996816.2:p.Lys793Ter
NM_206933.3:c.2377A>T NP_996816.2:p.Lys793Ter
NM_007123.6:c.2377A>T NP_009054.6:p.Lys793Ter
NM_206933.4:c.2377A>T MANE Select NP_996816.3:p.Lys793Ter
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