Canonical Allele Identifier: CA344828994
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1047012
ClinVar RCV Id: RCV001351655
dbSNP Id: rs1659890171

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728254T>C , CM000663.2:g.215728254T>C GRCh38
NC_000001.10:g.215901596T>C , CM000663.1:g.215901596T>C GRCh37
NC_000001.9:g.213968219T>C NCBI36
NG_009497.1:g.700143A>G
NG_009497.2:g.700195A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11842A>G MANE Select ENSP00000305941.3:p.Lys3948Glu
ENST00000674083.1:c.11842A>G ENSP00000501296.1:p.Lys3948Glu
ENST00000307340.7:c.11842A>G ENSP00000305941.3:p.Lys3948Glu
NM_206933.2:c.11842A>G NP_996816.2:p.Lys3948Glu
NM_206933.3:c.11842A>G NP_996816.2:p.Lys3948Glu
NM_206933.4:c.11842A>G MANE Select NP_996816.3:p.Lys3948Glu