Canonical Allele Identifier: CA2586968123
Gene: USH2A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674446dup , CM000663.2:g.215674446dup GRCh38
NC_000001.10:g.215847788dup , CM000663.1:g.215847788dup GRCh37
NC_000001.9:g.213914411dup NCBI36
NG_009497.1:g.753952dup
NG_009497.2:g.754004dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13466dup MANE Select ENSP00000305941.3:p.Glu4491GlyfsTer6
ENST00000674083.1:c.13466dup ENSP00000501296.1:p.Glu4491GlyfsTer6
ENST00000307340.7:c.13466dup ENSP00000305941.3:p.Glu4491GlyfsTer6
NM_206933.2:c.13466dup NP_996816.2:p.Glu4491GlyfsTer6
NM_206933.3:c.13466dup NP_996816.2:p.Glu4491GlyfsTer6
NM_206933.4:c.13466dup MANE Select NP_996816.3:p.Glu4491GlyfsTer6
Search 100 bp 5'
Search 100 bp 3'