Canonical Allele Identifier: CA1220434402

Gene: USH2A

Linked Data

• dbSNP Id: rs1662885631

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817270del , CM000663.2:g.215817270del	GRCh38
NC_000001.10:g.215990612del , CM000663.1:g.215990612del	GRCh37
NC_000001.9:g.214057235del	NCBI36
NG_009497.1:g.611127del
NG_009497.2:g.611179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9372-75del MANE Select	ENSP00000305941.3:n.9372-75del
ENST00000674083.1:c.9372-75del	ENSP00000501296.1:n.9372-75del
ENST00000307340.7:c.9372-75del	ENSP00000305941.3:n.9372-75del
NM_206933.2:c.9372-75del	NP_996816.2:n.9372-75del
NM_206933.3:c.9372-75del	NP_996816.2:n.9372-75del
NM_206933.4:c.9372-75del MANE Select	NP_996816.3:n.9372-75del