Canonical Allele Identifier: CA1220417029

Gene: USH2A

Linked Data

• dbSNP Id: rs1661670238

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782448_215782449del , CM000663.2:g.215782448_215782449del	GRCh38
NC_000001.10:g.215955790_215955791del , CM000663.1:g.215955790_215955791del	GRCh37
NC_000001.9:g.214022413_214022414del	NCBI36
NG_009497.1:g.645950_645951del
NG_009497.2:g.646002_646003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10586-251_10586-250del MANE Select	ENSP00000305941.3:n.10586-251_10586-250del
ENST00000674083.1:c.10586-251_10586-250del	ENSP00000501296.1:n.10586-251_10586-250del
ENST00000307340.7:c.10586-251_10586-250del	ENSP00000305941.3:n.10586-251_10586-250del
NM_206933.2:c.10586-251_10586-250del	NP_996816.2:n.10586-251_10586-250del
NM_206933.3:c.10586-251_10586-250del	NP_996816.2:n.10586-251_10586-250del
NM_206933.4:c.10586-251_10586-250del MANE Select	NP_996816.3:n.10586-251_10586-250del