Canonical Allele Identifier: CA1220619021

Gene: USH2A

Linked Data

• dbSNP Id: rs1572087876

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246493T>A , CM000663.2:g.216246493T>A	GRCh38
NC_000001.10:g.216419835T>A , CM000663.1:g.216419835T>A	GRCh37
NC_000001.9:g.214486458T>A	NCBI36
NG_009497.1:g.181904A>T
NG_009497.2:g.181956A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2809+92A>T MANE Select	ENSP00000305941.3:n.2809+92A>T
ENST00000674083.1:c.2809+92A>T	ENSP00000501296.1:n.2809+92A>T
ENST00000307340.7:c.2809+92A>T	ENSP00000305941.3:n.2809+92A>T
ENST00000366942.3:c.2809+92A>T	ENSP00000355909.3:n.2809+92A>T
NM_007123.5:c.2809+92A>T	NP_009054.5:n.2809+92A>T
NM_206933.2:c.2809+92A>T	NP_996816.2:n.2809+92A>T
NM_206933.3:c.2809+92A>T	NP_996816.2:n.2809+92A>T
NM_007123.6:c.2809+92A>T	NP_009054.6:n.2809+92A>T
NM_206933.4:c.2809+92A>T MANE Select	NP_996816.3:n.2809+92A>T