Canonical Allele Identifier: CA2542433341
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070302A>G , CM000663.2:g.216070302A>G GRCh38
NC_000001.10:g.216243644A>G , CM000663.1:g.216243644A>G GRCh37
NC_000001.9:g.214310267A>G NCBI36
NG_009497.1:g.358095T>C
NG_009497.2:g.358147T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5858-10T>C MANE Select ENSP00000305941.3:n.5858-10T>C
ENST00000674083.1:c.5858-10T>C ENSP00000501296.1:n.5858-10T>C
ENST00000307340.7:c.5858-10T>C ENSP00000305941.3:n.5858-10T>C
NM_206933.2:c.5858-10T>C NP_996816.2:n.5858-10T>C
NM_206933.3:c.5858-10T>C NP_996816.2:n.5858-10T>C
NM_206933.4:c.5858-10T>C MANE Select NP_996816.3:n.5858-10T>C