Canonical Allele Identifier: CA2695199984
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2679537
ClinVar RCV Id: RCV003464830
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728052del , CM000663.2:g.215728052del GRCh38
NC_000001.10:g.215901394del , CM000663.1:g.215901394del GRCh37
NC_000001.9:g.213968017del NCBI36
NG_009497.1:g.700346del
NG_009497.2:g.700398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12045del MANE Select ENSP00000305941.3:p.Val4016CysfsTer6
ENST00000674083.1:c.12045del ENSP00000501296.1:p.Val4016CysfsTer6
ENST00000307340.7:c.12045del ENSP00000305941.3:p.Val4016CysfsTer6
NM_206933.2:c.12045del NP_996816.2:p.Val4016CysfsTer6
NM_206933.3:c.12045del NP_996816.2:p.Val4016CysfsTer6
NM_206933.4:c.12045del MANE Select NP_996816.3:p.Val4016CysfsTer6
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Search 100 bp 3'