Canonical Allele Identifier: CA37395079
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs757451041
gnomAD v2: 1-215901365-G-GTCT
gnomAD v3: 1-215728023-G-GTCT
gnomAD v4: 1-215728023-G-GTCT
MyVariant Identifiers: chr1:g.215901365_215901366insTCT (hg19) chr1:g.215728023_215728024insTCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728025_215728027dup , CM000663.2:g.215728025_215728027dup GRCh38
NC_000001.10:g.215901367_215901369dup , CM000663.1:g.215901367_215901369dup GRCh37
NC_000001.9:g.213967990_213967992dup NCBI36
NG_009497.1:g.700371_700373dup
NG_009497.2:g.700423_700425dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12066+4_12066+6dup MANE Select ENSP00000305941.3:n.12066+4_12066+6dup
ENST00000674083.1:c.12066+4_12066+6dup ENSP00000501296.1:n.12066+4_12066+6dup
ENST00000307340.7:c.12066+4_12066+6dup ENSP00000305941.3:n.12066+4_12066+6dup
NM_206933.2:c.12066+4_12066+6dup NP_996816.2:n.12066+4_12066+6dup
NM_206933.3:c.12066+4_12066+6dup NP_996816.2:n.12066+4_12066+6dup
NM_206933.4:c.12066+4_12066+6dup MANE Select NP_996816.3:n.12066+4_12066+6dup
Search 100 bp 5'
Search 100 bp 3'