Canonical Allele Identifier: CA529002112
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1207124211
gnomAD v2: 1-215848793-G-GTCATGAATCCTAA
gnomAD v4: 1-215675451-G-GTCATGAATCCTAA
MyVariant Identifiers: chr1:g.215848793_215848794insTCATGAATCCTAA (hg19) chr1:g.215675451_215675452insTCATGAATCCTAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675451_215675452insTCATGAATCCTAA , CM000663.2:g.215675451_215675452insTCATGAATCCTAA GRCh38
NC_000001.10:g.215848793_215848794insTCATGAATCCTAA , CM000663.1:g.215848793_215848794insTCATGAATCCTAA GRCh37
NC_000001.9:g.213915416_213915417insTCATGAATCCTAA NCBI36
NG_009497.1:g.752945_752946insTTAGGATTCATGA
NG_009497.2:g.752997_752998insTTAGGATTCATGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12459_12460insTTAGGATTCATGA MANE Select ENSP00000305941.3:p.Pro4154LeufsTer23
ENST00000674083.1:c.12459_12460insTTAGGATTCATGA ENSP00000501296.1:p.Pro4154LeufsTer23
ENST00000307340.7:c.12459_12460insTTAGGATTCATGA ENSP00000305941.3:p.Pro4154LeufsTer23
NM_206933.2:c.12459_12460insTTAGGATTCATGA NP_996816.2:p.Pro4154LeufsTer23
NM_206933.3:c.12459_12460insTTAGGATTCATGA NP_996816.2:p.Pro4154LeufsTer23
NM_206933.4:c.12459_12460insTTAGGATTCATGA MANE Select NP_996816.3:p.Pro4154LeufsTer23
Search 100 bp 5'
Search 100 bp 3'