Canonical Allele Identifier: CA2573131536
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1422152
ClinVar RCV Id: RCV001945553
dbSNP Id: rs2102636059
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640687_215640688del , CM000663.2:g.215640687_215640688del GRCh38
NC_000001.10:g.215814029_215814030del , CM000663.1:g.215814029_215814030del GRCh37
NC_000001.9:g.213880652_213880653del NCBI36
NG_009497.1:g.787709_787710del
NG_009497.2:g.787761_787762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14838_14839del MANE Select ENSP00000305941.3:p.Val4949GlufsTer4
ENST00000674083.1:c.14838_14839del ENSP00000501296.1:p.Val4949GlufsTer4
ENST00000307340.7:c.14838_14839del ENSP00000305941.3:p.Val4949GlufsTer4
NM_206933.2:c.14838_14839del NP_996816.2:p.Val4949GlufsTer4
NM_206933.3:c.14838_14839del NP_996816.2:p.Val4949GlufsTer4
NM_206933.4:c.14838_14839del MANE Select NP_996816.3:p.Val4949GlufsTer4
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