Canonical Allele Identifier: CA423426478
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1665284
ClinVar RCV Id: RCV002203165
dbSNP Id: rs2102661431
MyVariant Identifiers: chr1:g.215844536A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671194A>G , CM000663.2:g.215671194A>G GRCh38
NC_000001.10:g.215844536A>G , CM000663.1:g.215844536A>G GRCh37
NC_000001.9:g.213911159A>G NCBI36
NG_009497.1:g.757203T>C
NG_009497.2:g.757255T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13911T>C MANE Select ENSP00000305941.3:p.Pro4637=
ENST00000674083.1:c.13911T>C ENSP00000501296.1:p.Pro4637=
ENST00000307340.7:c.13911T>C ENSP00000305941.3:p.Pro4637=
NM_206933.2:c.13911T>C NP_996816.2:p.Pro4637=
NM_206933.3:c.13911T>C NP_996816.2:p.Pro4637=
NM_206933.4:c.13911T>C MANE Select NP_996816.3:p.Pro4637=