Canonical Allele Identifier: CA16621592
Gene: USH2A HGNC NCBI
USH2A-AS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424937
dbSNP Id: rs1064797136

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216072971T>G , CM000663.2:g.216072971T>G GRCh38
NC_000001.10:g.216246313T>G , CM000663.1:g.216246313T>G GRCh37
NC_000001.9:g.214312936T>G NCBI36
NG_009497.1:g.355426A>C
NG_009497.2:g.355478A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5777-2A>C (USH2A) MANE Select ENSP00000305941.3:n.5777-2A>C
ENST00000674083.1:c.5777-2A>C (USH2A) ENSP00000501296.1:n.5777-2A>C
ENST00000307340.7:c.5777-2A>C (USH2A) ENSP00000305941.3:n.5777-2A>C
NM_206933.2:c.5777-2A>C (USH2A) NP_996816.2:n.5777-2A>C
NR_125992.1:n.136+371T>G (USH2A-AS2)
NR_125993.1:n.136+371T>G (USH2A-AS2)
NM_206933.3:c.5777-2A>C (USH2A) NP_996816.2:n.5777-2A>C
NM_206933.4:c.5777-2A>C (USH2A) MANE Select NP_996816.3:n.5777-2A>C