Canonical Allele Identifier: CA1220414314

Gene: USH2A

Linked Data

• dbSNP Id: rs1661569340
• gnomAD v4: 1-215779801-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779803_215779804dup , CM000663.2:g.215779803_215779804dup	GRCh38
NC_000001.10:g.215953145_215953146dup , CM000663.1:g.215953145_215953146dup	GRCh37
NC_000001.9:g.214019768_214019769dup	NCBI36
NG_009497.1:g.648594_648595dup
NG_009497.2:g.648646_648647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+40_10939+41dup MANE Select	ENSP00000305941.3:n.10939+40_10939+41dup
ENST00000674083.1:c.10939+40_10939+41dup	ENSP00000501296.1:n.10939+40_10939+41dup
ENST00000307340.7:c.10939+40_10939+41dup	ENSP00000305941.3:n.10939+40_10939+41dup
NM_206933.2:c.10939+40_10939+41dup	NP_996816.2:n.10939+40_10939+41dup
NM_206933.3:c.10939+40_10939+41dup	NP_996816.2:n.10939+40_10939+41dup
NM_206933.4:c.10939+40_10939+41dup MANE Select	NP_996816.3:n.10939+40_10939+41dup