Canonical Allele Identifier: CA344840232
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1481918
ClinVar RCV Id: RCV001994331
dbSNP Id: rs2102661208

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671025A>G , CM000663.2:g.215671025A>G GRCh38
NC_000001.10:g.215844367A>G , CM000663.1:g.215844367A>G GRCh37
NC_000001.9:g.213910990A>G NCBI36
NG_009497.1:g.757372T>C
NG_009497.2:g.757424T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14080T>C MANE Select ENSP00000305941.3:p.Ser4694Pro
ENST00000674083.1:c.14080T>C ENSP00000501296.1:p.Ser4694Pro
ENST00000307340.7:c.14080T>C ENSP00000305941.3:p.Ser4694Pro
NM_206933.2:c.14080T>C NP_996816.2:p.Ser4694Pro
NM_206933.3:c.14080T>C NP_996816.2:p.Ser4694Pro
NM_206933.4:c.14080T>C MANE Select NP_996816.3:p.Ser4694Pro