Canonical Allele Identifier: CA344857466

Gene: USH2A

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215934685G>A , CM000663.2:g.215934685G>A	GRCh38
NC_000001.10:g.216108027G>A , CM000663.1:g.216108027G>A	GRCh37
NC_000001.9:g.214174650G>A	NCBI36
NG_009497.1:g.493712C>T
NG_009497.2:g.493764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7231C>T MANE Select	ENSP00000305941.3:p.Gln2411Ter
ENST00000674083.1:c.7231C>T	ENSP00000501296.1:p.Gln2411Ter
ENST00000307340.7:c.7231C>T	ENSP00000305941.3:p.Gln2411Ter
NM_206933.2:c.7231C>T	NP_996816.2:p.Gln2411Ter
NM_206933.3:c.7231C>T	NP_996816.2:p.Gln2411Ter
NM_206933.4:c.7231C>T MANE Select	NP_996816.3:p.Gln2411Ter