Canonical Allele Identifier: CA731384883
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1611477
ClinVar RCV Id: RCV002148072
dbSNP Id: rs1310926465
MyVariant Identifiers: chr1:g.215990332G>C (hg19) chr1:g.215816990G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816990G>C , CM000663.2:g.215816990G>C GRCh38
NC_000001.10:g.215990332G>C , CM000663.1:g.215990332G>C GRCh37
NC_000001.9:g.214056955G>C NCBI36
NG_009497.1:g.611407C>G
NG_009497.2:g.611459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+7C>G MANE Select ENSP00000305941.3:n.9570+7C>G
ENST00000674083.1:c.9570+7C>G ENSP00000501296.1:n.9570+7C>G
ENST00000307340.7:c.9570+7C>G ENSP00000305941.3:n.9570+7C>G
NM_206933.2:c.9570+7C>G NP_996816.2:n.9570+7C>G
NM_206933.3:c.9570+7C>G NP_996816.2:n.9570+7C>G
NM_206933.4:c.9570+7C>G MANE Select NP_996816.3:n.9570+7C>G
Search 100 bp 5'
Search 100 bp 3'