Canonical Allele Identifier: CA1012189445

Gene: USH2A

Linked Data

• dbSNP Id: rs1661649288
• gnomAD v3: 1-215781783-GA-G
• gnomAD v4: 1-215781783-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781787del , CM000663.2:g.215781787del	GRCh38
NC_000001.10:g.215955129del , CM000663.1:g.215955129del	GRCh37
NC_000001.9:g.214021752del	NCBI36
NG_009497.1:g.646613del
NG_009497.2:g.646665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+258del MANE Select	ENSP00000305941.3:n.10740+258del
ENST00000674083.1:c.10740+258del	ENSP00000501296.1:n.10740+258del
ENST00000307340.7:c.10740+258del	ENSP00000305941.3:n.10740+258del
NM_206933.2:c.10740+258del	NP_996816.2:n.10740+258del
NM_206933.3:c.10740+258del	NP_996816.2:n.10740+258del
NM_206933.4:c.10740+258del MANE Select	NP_996816.3:n.10740+258del