Canonical Allele Identifier: CA1220412906

Gene: USH2A

Linked Data

• dbSNP Id: rs1661145671

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766842_215766843insC , CM000663.2:g.215766842_215766843insC	GRCh38
NC_000001.10:g.215940184_215940185insC , CM000663.1:g.215940184_215940185insC	GRCh37
NC_000001.9:g.214006807_214006808insC	NCBI36
NG_009497.1:g.661554_661555insG
NG_009497.2:g.661606_661607insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10940-55_10940-54insG MANE Select	ENSP00000305941.3:n.10940-55_10940-54insG
ENST00000674083.1:c.10940-55_10940-54insG	ENSP00000501296.1:n.10940-55_10940-54insG
ENST00000307340.7:c.10940-55_10940-54insG	ENSP00000305941.3:n.10940-55_10940-54insG
NM_206933.2:c.10940-55_10940-54insG	NP_996816.2:n.10940-55_10940-54insG
NM_206933.3:c.10940-55_10940-54insG	NP_996816.2:n.10940-55_10940-54insG
NM_206933.4:c.10940-55_10940-54insG MANE Select	NP_996816.3:n.10940-55_10940-54insG