Canonical Allele Identifier: CA1220414117

Gene: USH2A

Linked Data

• dbSNP Id: rs1661563169

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779602T>C , CM000663.2:g.215779602T>C	GRCh38
NC_000001.10:g.215952944T>C , CM000663.1:g.215952944T>C	GRCh37
NC_000001.9:g.214019567T>C	NCBI36
NG_009497.1:g.648795A>G
NG_009497.2:g.648847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10939+241A>G MANE Select	ENSP00000305941.3:n.10939+241A>G
ENST00000674083.1:c.10939+241A>G	ENSP00000501296.1:n.10939+241A>G
ENST00000307340.7:c.10939+241A>G	ENSP00000305941.3:n.10939+241A>G
NM_206933.2:c.10939+241A>G	NP_996816.2:n.10939+241A>G
NM_206933.3:c.10939+241A>G	NP_996816.2:n.10939+241A>G
NM_206933.4:c.10939+241A>G MANE Select	NP_996816.3:n.10939+241A>G