Canonical Allele Identifier: CA262078
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48405
dbSNP Id: rs397517981

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675197A>C , CM000663.2:g.215675197A>C GRCh38
NC_000001.10:g.215848539A>C , CM000663.1:g.215848539A>C GRCh37
NC_000001.9:g.213915162A>C NCBI36
NG_009497.1:g.753200T>G
NG_009497.2:g.753252T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12714T>G MANE Select ENSP00000305941.3:p.Tyr4238Ter
ENST00000674083.1:c.12714T>G ENSP00000501296.1:p.Tyr4238Ter
ENST00000307340.7:c.12714T>G ENSP00000305941.3:p.Tyr4238Ter
NM_206933.2:c.12714T>G NP_996816.2:p.Tyr4238Ter
NM_206933.3:c.12714T>G NP_996816.2:p.Tyr4238Ter
NM_206933.4:c.12714T>G MANE Select NP_996816.3:p.Tyr4238Ter