Canonical Allele Identifier: CA179556
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166493
ClinVar RCV Id: RCV002056017
dbSNP Id: rs727503727
ExAC: 1:216243646 T / C
gnomAD v2: 1-216243646-T-C
gnomAD v3: 1-216070304-T-C
gnomAD v4: 1-216070304-T-C
MyVariant Identifiers: chr1:g.216243646T>C (hg19) chr1:g.216070304T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216070304T>C , CM000663.2:g.216070304T>C GRCh38
NC_000001.10:g.216243646T>C , CM000663.1:g.216243646T>C GRCh37
NC_000001.9:g.214310269T>C NCBI36
NG_009497.1:g.358093A>G
NG_009497.2:g.358145A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.5858-12A>G MANE Select ENSP00000305941.3:n.5858-12A>G
ENST00000674083.1:c.5858-12A>G ENSP00000501296.1:n.5858-12A>G
ENST00000307340.7:c.5858-12A>G ENSP00000305941.3:n.5858-12A>G
NM_206933.2:c.5858-12A>G NP_996816.2:n.5858-12A>G
NM_206933.3:c.5858-12A>G NP_996816.2:n.5858-12A>G
NM_206933.4:c.5858-12A>G MANE Select NP_996816.3:n.5858-12A>G
Search 100 bp 5'
Search 100 bp 3'