Canonical Allele Identifier: CA2607170572
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs2102762968

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782345C>A , CM000663.2:g.215782345C>A GRCh38
NC_000001.10:g.215955687C>A , CM000663.1:g.215955687C>A GRCh37
NC_000001.9:g.214022310C>A NCBI36
NG_009497.1:g.646052G>T
NG_009497.2:g.646104G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-149G>T MANE Select ENSP00000305941.3:n.10586-149G>T
ENST00000674083.1:c.10586-149G>T ENSP00000501296.1:n.10586-149G>T
ENST00000307340.7:c.10586-149G>T ENSP00000305941.3:n.10586-149G>T
NM_206933.2:c.10586-149G>T NP_996816.2:n.10586-149G>T
NM_206933.3:c.10586-149G>T NP_996816.2:n.10586-149G>T
NM_206933.4:c.10586-149G>T MANE Select NP_996816.3:n.10586-149G>T