Canonical Allele Identifier: CA423313229
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2194278
ClinVar RCV Id: RCV002637063
MyVariant Identifiers: chr1:g.215955435A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782093A>G , CM000663.2:g.215782093A>G GRCh38
NC_000001.10:g.215955435A>G , CM000663.1:g.215955435A>G GRCh37
NC_000001.9:g.214022058A>G NCBI36
NG_009497.1:g.646304T>C
NG_009497.2:g.646356T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10689T>C MANE Select ENSP00000305941.3:p.Tyr3563=
ENST00000674083.1:c.10689T>C ENSP00000501296.1:p.Tyr3563=
ENST00000307340.7:c.10689T>C ENSP00000305941.3:p.Tyr3563=
NM_206933.2:c.10689T>C NP_996816.2:p.Tyr3563=
NM_206933.3:c.10689T>C NP_996816.2:p.Tyr3563=
NM_206933.4:c.10689T>C MANE Select NP_996816.3:p.Tyr3563=
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