Canonical Allele Identifier: CA423428090
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2077531
ClinVar RCV Id: RCV002976546
COSMIC: COSM5719478 COSM5719479
MyVariant Identifiers: chr1:g.215848560T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675218T>C , CM000663.2:g.215675218T>C GRCh38
NC_000001.10:g.215848560T>C , CM000663.1:g.215848560T>C GRCh37
NC_000001.9:g.213915183T>C NCBI36
NG_009497.1:g.753179A>G
NG_009497.2:g.753231A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12693A>G MANE Select ENSP00000305941.3:p.Gln4231=
ENST00000674083.1:c.12693A>G ENSP00000501296.1:p.Gln4231=
ENST00000307340.7:c.12693A>G ENSP00000305941.3:p.Gln4231=
NM_206933.2:c.12693A>G NP_996816.2:p.Gln4231=
NM_206933.3:c.12693A>G NP_996816.2:p.Gln4231=
NM_206933.4:c.12693A>G MANE Select NP_996816.3:p.Gln4231=
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