Canonical Allele Identifier: CA279037
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 217027
dbSNP Id: rs863224941

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799038G>C , CM000663.2:g.215799038G>C GRCh38
NC_000001.10:g.215972380G>C , CM000663.1:g.215972380G>C GRCh37
NC_000001.9:g.214039003G>C NCBI36
NG_009497.1:g.629359C>G
NG_009497.2:g.629411C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9827C>G MANE Select ENSP00000305941.3:p.Ser3276Ter
ENST00000674083.1:c.9827C>G ENSP00000501296.1:p.Ser3276Ter
ENST00000307340.7:c.9827C>G ENSP00000305941.3:p.Ser3276Ter
NM_206933.2:c.9827C>G NP_996816.2:p.Ser3276Ter
NM_206933.3:c.9827C>G NP_996816.2:p.Ser3276Ter
NM_206933.4:c.9827C>G MANE Select NP_996816.3:p.Ser3276Ter