Canonical Allele Identifier: CA1220416924
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1661667823

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215782360A>T , CM000663.2:g.215782360A>T GRCh38
NC_000001.10:g.215955702A>T , CM000663.1:g.215955702A>T GRCh37
NC_000001.9:g.214022325A>T NCBI36
NG_009497.1:g.646037T>A
NG_009497.2:g.646089T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10586-164T>A MANE Select ENSP00000305941.3:n.10586-164T>A
ENST00000674083.1:c.10586-164T>A ENSP00000501296.1:n.10586-164T>A
ENST00000307340.7:c.10586-164T>A ENSP00000305941.3:n.10586-164T>A
NM_206933.2:c.10586-164T>A NP_996816.2:n.10586-164T>A
NM_206933.3:c.10586-164T>A NP_996816.2:n.10586-164T>A
NM_206933.4:c.10586-164T>A MANE Select NP_996816.3:n.10586-164T>A