Canonical Allele Identifier: CA262070
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48388
dbSNP Id: rs397517976

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728142C>T , CM000663.2:g.215728142C>T GRCh38
NC_000001.10:g.215901484C>T , CM000663.1:g.215901484C>T GRCh37
NC_000001.9:g.213968107C>T NCBI36
NG_009497.1:g.700255G>A
NG_009497.2:g.700307G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11954G>A MANE Select ENSP00000305941.3:p.Trp3985Ter
ENST00000674083.1:c.11954G>A ENSP00000501296.1:p.Trp3985Ter
ENST00000307340.7:c.11954G>A ENSP00000305941.3:p.Trp3985Ter
NM_206933.2:c.11954G>A NP_996816.2:p.Trp3985Ter
NM_206933.3:c.11954G>A NP_996816.2:p.Trp3985Ter
NM_206933.4:c.11954G>A MANE Select NP_996816.3:p.Trp3985Ter