Canonical Allele Identifier: CA1145384091
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215934579A= , CM000663.2:g.215934579A= GRCh38
NC_000001.10:g.216107921A= , CM000663.1:g.216107921A= GRCh37
NC_000001.9:g.214174544A= NCBI36
NG_009497.1:g.493818T=
NG_009497.2:g.493870T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7300+37T= MANE Select ENSP00000305941.3:n.7300+37T=
ENST00000674083.1:c.7300+37T= ENSP00000501296.1:n.7300+37T=
ENST00000307340.7:c.7300+37T= ENSP00000305941.3:n.7300+37T=
NM_206933.2:c.7300+37T= NP_996816.2:n.7300+37T=
NM_206933.3:c.7300+37T= NP_996816.2:n.7300+37T=
NM_206933.4:c.7300+37T= MANE Select NP_996816.3:n.7300+37T=