Canonical Allele Identifier: CA275270
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 197447
dbSNP Id: rs201657446

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215889057G>C , CM000663.2:g.215889057G>C GRCh38
NC_000001.10:g.216062399G>C , CM000663.1:g.216062399G>C GRCh37
NC_000001.9:g.214129022G>C NCBI36
NG_009497.1:g.539340C>G
NG_009497.2:g.539392C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7595-3C>G MANE Select ENSP00000305941.3:n.7595-3C>G
ENST00000674083.1:c.7595-3C>G ENSP00000501296.1:n.7595-3C>G
ENST00000307340.7:c.7595-3C>G ENSP00000305941.3:n.7595-3C>G
NM_206933.2:c.7595-3C>G NP_996816.2:n.7595-3C>G
NM_206933.3:c.7595-3C>G NP_996816.2:n.7595-3C>G
NM_206933.4:c.7595-3C>G MANE Select NP_996816.3:n.7595-3C>G