Canonical Allele Identifier: CA2747729375
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070355_216070356insAGAG , CM000663.2:g.216070355_216070356insAGAG GRCh38
NC_000001.10:g.216243697_216243698insAGAG , CM000663.1:g.216243697_216243698insAGAG GRCh37
NC_000001.9:g.214310320_214310321insAGAG NCBI36
NG_009497.1:g.358041_358042insCTCT
NG_009497.2:g.358093_358094insCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-64_5858-63insCTCT MANE Select ENSP00000305941.3:n.5858-64_5858-63insCTCT
ENST00000674083.1:c.5858-64_5858-63insCTCT ENSP00000501296.1:n.5858-64_5858-63insCTCT
ENST00000307340.7:c.5858-64_5858-63insCTCT ENSP00000305941.3:n.5858-64_5858-63insCTCT
NM_206933.2:c.5858-64_5858-63insCTCT NP_996816.2:n.5858-64_5858-63insCTCT
NM_206933.3:c.5858-64_5858-63insCTCT NP_996816.2:n.5858-64_5858-63insCTCT
NM_206933.4:c.5858-64_5858-63insCTCT MANE Select NP_996816.3:n.5858-64_5858-63insCTCT