Canonical Allele Identifier: CA2698057617

Gene: USH2A

Linked Data

• dbSNP Id: rs2102763032

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782389_215782390insCTCT , CM000663.2:g.215782389_215782390insCTCT	GRCh38
NC_000001.10:g.215955731_215955732insCTCT , CM000663.1:g.215955731_215955732insCTCT	GRCh37
NC_000001.9:g.214022354_214022355insCTCT	NCBI36
NG_009497.1:g.646007_646008insAGAG
NG_009497.2:g.646059_646060insAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-194_10586-193insAGAG MANE Select	ENSP00000305941.3:n.10586-194_10586-193insAGAG
ENST00000674083.1:c.10586-194_10586-193insAGAG	ENSP00000501296.1:n.10586-194_10586-193insAGAG
ENST00000307340.7:c.10586-194_10586-193insAGAG	ENSP00000305941.3:n.10586-194_10586-193insAGAG
NM_206933.2:c.10586-194_10586-193insAGAG	NP_996816.2:n.10586-194_10586-193insAGAG
NM_206933.3:c.10586-194_10586-193insAGAG	NP_996816.2:n.10586-194_10586-193insAGAG
NM_206933.4:c.10586-194_10586-193insAGAG MANE Select	NP_996816.3:n.10586-194_10586-193insAGAG