Canonical Allele Identifier: CA344865492
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1432720
ClinVar RCV Id: RCV001944052
dbSNP Id: rs1450983588

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247160T>G , CM000663.2:g.216247160T>G GRCh38
NC_000001.10:g.216420502T>G , CM000663.1:g.216420502T>G GRCh37
NC_000001.9:g.214487125T>G NCBI36
NG_009497.1:g.181237A>C
NG_009497.2:g.181289A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2234A>C MANE Select ENSP00000305941.3:p.Glu745Ala
ENST00000674083.1:c.2234A>C ENSP00000501296.1:p.Glu745Ala
ENST00000307340.7:c.2234A>C ENSP00000305941.3:p.Glu745Ala
ENST00000366942.3:c.2234A>C ENSP00000355909.3:p.Glu745Ala
NM_007123.5:c.2234A>C NP_009054.5:p.Glu745Ala
NM_206933.2:c.2234A>C NP_996816.2:p.Glu745Ala
NM_206933.3:c.2234A>C NP_996816.2:p.Glu745Ala
NM_007123.6:c.2234A>C NP_009054.6:p.Glu745Ala
NM_206933.4:c.2234A>C MANE Select NP_996816.3:p.Glu745Ala