Canonical Allele Identifier: CA2650527142
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215782297-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782298dup , CM000663.2:g.215782298dup GRCh38
NC_000001.10:g.215955640dup , CM000663.1:g.215955640dup GRCh37
NC_000001.9:g.214022263dup NCBI36
NG_009497.1:g.646099dup
NG_009497.2:g.646151dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-102dup MANE Select ENSP00000305941.3:n.10586-102dup
ENST00000674083.1:c.10586-102dup ENSP00000501296.1:n.10586-102dup
ENST00000307340.7:c.10586-102dup ENSP00000305941.3:n.10586-102dup
NM_206933.2:c.10586-102dup NP_996816.2:n.10586-102dup
NM_206933.3:c.10586-102dup NP_996816.2:n.10586-102dup
NM_206933.4:c.10586-102dup MANE Select NP_996816.3:n.10586-102dup
Search 100 bp 5'
Search 100 bp 3'