Canonical Allele Identifier: CA529002109
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1389627599
gnomAD v2: 1-215848782-A-ATGGGTGCCTTGGGGCCGT
gnomAD v4: 1-215675440-A-ATGGGTGCCTTGGGGCCGT
MyVariant Identifiers: chr1:g.215848782_215848783insTGGGTGCCTTGGGGCCGT (hg19) chr1:g.215675440_215675441insTGGGTGCCTTGGGGCCGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675440_215675441insTGGGTGCCTTGGGGCCGT , CM000663.2:g.215675440_215675441insTGGGTGCCTTGGGGCCGT GRCh38
NC_000001.10:g.215848782_215848783insTGGGTGCCTTGGGGCCGT , CM000663.1:g.215848782_215848783insTGGGTGCCTTGGGGCCGT GRCh37
NC_000001.9:g.213915405_213915406insTGGGTGCCTTGGGGCCGT NCBI36
NG_009497.1:g.752956_752957insACGGCCCCAAGGCACCCA
NG_009497.2:g.753008_753009insACGGCCCCAAGGCACCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12470_12471insACGGCCCCAAGGCACCCA MANE Select ENSP00000305941.3:p.Ser4157_Gln4158insArgProGlnGlyThrHis
ENST00000674083.1:c.12470_12471insACGGCCCCAAGGCACCCA ENSP00000501296.1:p.Ser4157_Gln4158insArgProGlnGlyThrHis
ENST00000307340.7:c.12470_12471insACGGCCCCAAGGCACCCA ENSP00000305941.3:p.Ser4157_Gln4158insArgProGlnGlyThrHis
NM_206933.2:c.12470_12471insACGGCCCCAAGGCACCCA NP_996816.2:p.Ser4157_Gln4158insArgProGlnGlyThrHis
NM_206933.3:c.12470_12471insACGGCCCCAAGGCACCCA NP_996816.2:p.Ser4157_Gln4158insArgProGlnGlyThrHis
NM_206933.4:c.12470_12471insACGGCCCCAAGGCACCCA MANE Select NP_996816.3:p.Ser4157_Gln4158insArgProGlnGlyThrHis
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