Canonical Allele Identifier: CA2650500593
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215675278-A-AATTTTCTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675279_215675286dup , CM000663.2:g.215675279_215675286dup GRCh38
NC_000001.10:g.215848621_215848628dup , CM000663.1:g.215848621_215848628dup GRCh37
NC_000001.9:g.213915244_213915251dup NCBI36
NG_009497.1:g.753111_753118dup
NG_009497.2:g.753163_753170dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12625_12632dup MANE Select ENSP00000305941.3:p.Ile4211MetfsTer?
ENST00000674083.1:c.12625_12632dup ENSP00000501296.1:p.Ile4211MetfsTer?
ENST00000307340.7:c.12625_12632dup ENSP00000305941.3:p.Ile4211MetfsTer?
NM_206933.2:c.12625_12632dup NP_996816.2:p.Ile4211MetfsTer?
NM_206933.3:c.12625_12632dup NP_996816.2:p.Ile4211MetfsTer?
NM_206933.4:c.12625_12632dup MANE Select NP_996816.3:p.Ile4211MetfsTer?
Search 100 bp 5'
Search 100 bp 3'