Canonical Allele Identifier: CA1220359749
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640739G= , CM000663.2:g.215640739G= GRCh38
NC_000001.10:g.215814081G= , CM000663.1:g.215814081G= GRCh37
NC_000001.9:g.213880704G= NCBI36
NG_009497.1:g.787658C=
NG_009497.2:g.787710C=

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.14792-5C= MANE Select ENSP00000305941.3:n.14792-5C=
ENST00000674083.1:c.14792-5C= ENSP00000501296.1:n.14792-5C=
ENST00000307340.7:c.14792-5C= ENSP00000305941.3:n.14792-5C=
NM_206933.2:c.14792-5C= NP_996816.2:n.14792-5C=
NM_206933.3:c.14792-5C= NP_996816.2:n.14792-5C=
NM_206933.4:c.14792-5C= MANE Select NP_996816.3:n.14792-5C=