Canonical Allele Identifier: CA528709898
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1254066031
gnomAD v2: 1-215940411-GA-G
gnomAD v3: 1-215767069-GA-G
gnomAD v4: 1-215767069-GA-G
MyVariant Identifiers: chr1:g.215940412del (hg19) chr1:g.215767070del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215767073del , CM000663.2:g.215767073del GRCh38
NC_000001.10:g.215940415del , CM000663.1:g.215940415del GRCh37
NC_000001.9:g.214007038del NCBI36
NG_009497.1:g.661327del
NG_009497.2:g.661379del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10940-282del MANE Select ENSP00000305941.3:n.10940-282del
ENST00000674083.1:c.10940-282del ENSP00000501296.1:n.10940-282del
ENST00000307340.7:c.10940-282del ENSP00000305941.3:n.10940-282del
NM_206933.2:c.10940-282del NP_996816.2:n.10940-282del
NM_206933.3:c.10940-282del NP_996816.2:n.10940-282del
NM_206933.4:c.10940-282del MANE Select NP_996816.3:n.10940-282del
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