Canonical Allele Identifier: CA2747721043
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782301T>A , CM000663.2:g.215782301T>A GRCh38
NC_000001.10:g.215955643T>A , CM000663.1:g.215955643T>A GRCh37
NC_000001.9:g.214022266T>A NCBI36
NG_009497.1:g.646096A>T
NG_009497.2:g.646148A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-105A>T MANE Select ENSP00000305941.3:n.10586-105A>T
ENST00000674083.1:c.10586-105A>T ENSP00000501296.1:n.10586-105A>T
ENST00000307340.7:c.10586-105A>T ENSP00000305941.3:n.10586-105A>T
NM_206933.2:c.10586-105A>T NP_996816.2:n.10586-105A>T
NM_206933.3:c.10586-105A>T NP_996816.2:n.10586-105A>T
NM_206933.4:c.10586-105A>T MANE Select NP_996816.3:n.10586-105A>T