Canonical Allele Identifier: CA2650501282
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2695420
ClinVar RCV Id: RCV003542094
gnomAD v4: 1-215728011-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728011C>G , CM000663.2:g.215728011C>G GRCh38
NC_000001.10:g.215901353C>G , CM000663.1:g.215901353C>G GRCh37
NC_000001.9:g.213967976C>G NCBI36
NG_009497.1:g.700386G>C
NG_009497.2:g.700438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12066+19G>C MANE Select ENSP00000305941.3:n.12066+19G>C
ENST00000674083.1:c.12066+19G>C ENSP00000501296.1:n.12066+19G>C
ENST00000307340.7:c.12066+19G>C ENSP00000305941.3:n.12066+19G>C
NM_206933.2:c.12066+19G>C NP_996816.2:n.12066+19G>C
NM_206933.3:c.12066+19G>C NP_996816.2:n.12066+19G>C
NM_206933.4:c.12066+19G>C MANE Select NP_996816.3:n.12066+19G>C
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