Canonical Allele Identifier: CA344825192
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1375709
ClinVar RCV Id: RCV001883417
dbSNP Id: rs1662881745

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817139T>C , CM000663.2:g.215817139T>C GRCh38
NC_000001.10:g.215990481T>C , CM000663.1:g.215990481T>C GRCh37
NC_000001.9:g.214057104T>C NCBI36
NG_009497.1:g.611258A>G
NG_009497.2:g.611310A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9428A>G MANE Select ENSP00000305941.3:p.Tyr3143Cys
ENST00000674083.1:c.9428A>G ENSP00000501296.1:p.Tyr3143Cys
ENST00000307340.7:c.9428A>G ENSP00000305941.3:p.Tyr3143Cys
NM_206933.2:c.9428A>G NP_996816.2:p.Tyr3143Cys
NM_206933.3:c.9428A>G NP_996816.2:p.Tyr3143Cys
NM_206933.4:c.9428A>G MANE Select NP_996816.3:p.Tyr3143Cys