Canonical Allele Identifier: CA2747722580

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817288_215817289insC , CM000663.2:g.215817288_215817289insC	GRCh38
NC_000001.10:g.215990630_215990631insC , CM000663.1:g.215990630_215990631insC	GRCh37
NC_000001.9:g.214057253_214057254insC	NCBI36
NG_009497.1:g.611108_611109insG
NG_009497.2:g.611160_611161insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-94_9372-93insG MANE Select	ENSP00000305941.3:n.9372-94_9372-93insG
ENST00000674083.1:c.9372-94_9372-93insG	ENSP00000501296.1:n.9372-94_9372-93insG
ENST00000307340.7:c.9372-94_9372-93insG	ENSP00000305941.3:n.9372-94_9372-93insG
NM_206933.2:c.9372-94_9372-93insG	NP_996816.2:n.9372-94_9372-93insG
NM_206933.3:c.9372-94_9372-93insG	NP_996816.2:n.9372-94_9372-93insG
NM_206933.4:c.9372-94_9372-93insG MANE Select	NP_996816.3:n.9372-94_9372-93insG