Canonical Allele Identifier: CA529002115
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1558049118
gnomAD v2: 1-215848878-GA-G
gnomAD v4: 1-215675536-GA-G
MyVariant Identifiers: chr1:g.215848879del (hg19) chr1:g.215675537del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675539del , CM000663.2:g.215675539del GRCh38
NC_000001.10:g.215848881del , CM000663.1:g.215848881del GRCh37
NC_000001.9:g.213915504del NCBI36
NG_009497.1:g.752860del
NG_009497.2:g.752912del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12374del MANE Select ENSP00000305941.3:p.Phe4125SerfsTer6
ENST00000674083.1:c.12374del ENSP00000501296.1:p.Phe4125SerfsTer6
ENST00000307340.7:c.12374del ENSP00000305941.3:p.Phe4125SerfsTer6
NM_206933.2:c.12374del NP_996816.2:p.Phe4125SerfsTer6
NM_206933.3:c.12374del NP_996816.2:p.Phe4125SerfsTer6
NM_206933.4:c.12374del MANE Select NP_996816.3:p.Phe4125SerfsTer6
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