Canonical Allele Identifier: CA731337450

Gene: USH2A

Linked Data

• dbSNP Id: rs1452042354
• MyVariant Identifiers: chr1:g.215953682_215953685del (hg19) ; chr1:g.215780340_215780343del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780342_215780345del , CM000663.2:g.215780342_215780345del	GRCh38
NC_000001.10:g.215953684_215953687del , CM000663.1:g.215953684_215953687del	GRCh37
NC_000001.9:g.214020307_214020310del	NCBI36
NG_009497.1:g.648054_648057del
NG_009497.2:g.648106_648109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10741-302_10741-299del MANE Select	ENSP00000305941.3:n.10741-302_10741-299del
ENST00000674083.1:c.10741-302_10741-299del	ENSP00000501296.1:n.10741-302_10741-299del
ENST00000307340.7:c.10741-302_10741-299del	ENSP00000305941.3:n.10741-302_10741-299del
NM_206933.2:c.10741-302_10741-299del	NP_996816.2:n.10741-302_10741-299del
NM_206933.3:c.10741-302_10741-299del	NP_996816.2:n.10741-302_10741-299del
NM_206933.4:c.10741-302_10741-299del MANE Select	NP_996816.3:n.10741-302_10741-299del