Canonical Allele Identifier: CA1220414101

Gene: USH2A

Linked Data

• dbSNP Id: rs1661562650

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779579_215779582del , CM000663.2:g.215779579_215779582del	GRCh38
NC_000001.10:g.215952921_215952924del , CM000663.1:g.215952921_215952924del	GRCh37
NC_000001.9:g.214019544_214019547del	NCBI36
NG_009497.1:g.648816_648819del
NG_009497.2:g.648868_648871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+262_10939+265del MANE Select	ENSP00000305941.3:n.10939+262_10939+265del
ENST00000674083.1:c.10939+262_10939+265del	ENSP00000501296.1:n.10939+262_10939+265del
ENST00000307340.7:c.10939+262_10939+265del	ENSP00000305941.3:n.10939+262_10939+265del
NM_206933.2:c.10939+262_10939+265del	NP_996816.2:n.10939+262_10939+265del
NM_206933.3:c.10939+262_10939+265del	NP_996816.2:n.10939+262_10939+265del
NM_206933.4:c.10939+262_10939+265del MANE Select	NP_996816.3:n.10939+262_10939+265del