Canonical Allele Identifier: CA1220372213
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671257T= , CM000663.2:g.215671257T= GRCh38
NC_000001.10:g.215844599T= , CM000663.1:g.215844599T= GRCh37
NC_000001.9:g.213911222T= NCBI36
NG_009497.1:g.757140A=
NG_009497.2:g.757192A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13848A= MANE Select ENSP00000305941.3:p.Gly4616=
ENST00000674083.1:c.13848A= ENSP00000501296.1:p.Gly4616=
ENST00000307340.7:c.13848A= ENSP00000305941.3:p.Gly4616=
NM_206933.2:c.13848A= NP_996816.2:p.Gly4616=
NM_206933.3:c.13848A= NP_996816.2:p.Gly4616=
NM_206933.4:c.13848A= MANE Select NP_996816.3:p.Gly4616=