Canonical Allele Identifier: CA2532804992
Gene: USH2A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675539_215675540insAGCTT , CM000663.2:g.215675539_215675540insAGCTT GRCh38
NC_000001.10:g.215848881_215848882insAGCTT , CM000663.1:g.215848881_215848882insAGCTT GRCh37
NC_000001.9:g.213915504_213915505insAGCTT NCBI36
NG_009497.1:g.752857_752858insAAGCT
NG_009497.2:g.752909_752910insAAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12371_12372insAAGCT MANE Select ENSP00000305941.3:p.Phe4125SerfsTer8
ENST00000674083.1:c.12371_12372insAAGCT ENSP00000501296.1:p.Phe4125SerfsTer8
ENST00000307340.7:c.12371_12372insAAGCT ENSP00000305941.3:p.Phe4125SerfsTer8
NM_206933.2:c.12371_12372insAAGCT NP_996816.2:p.Phe4125SerfsTer8
NM_206933.3:c.12371_12372insAAGCT NP_996816.2:p.Phe4125SerfsTer8
NM_206933.4:c.12371_12372insAAGCT MANE Select NP_996816.3:p.Phe4125SerfsTer8
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