Canonical Allele Identifier: CA1393637
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs756328093
ExAC: 1:215901760 C / T
gnomAD v2: 1-215901760-C-T
gnomAD v4: 1-215728418-C-T
MyVariant Identifiers: chr1:g.215901760C>T (hg19) chr1:g.215728418C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728418C>T , CM000663.2:g.215728418C>T GRCh38
NC_000001.10:g.215901760C>T , CM000663.1:g.215901760C>T GRCh37
NC_000001.9:g.213968383C>T NCBI36
NG_009497.1:g.699979G>A
NG_009497.2:g.700031G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11712-34G>A MANE Select ENSP00000305941.3:n.11712-34G>A
ENST00000674083.1:c.11712-34G>A ENSP00000501296.1:n.11712-34G>A
ENST00000307340.7:c.11712-34G>A ENSP00000305941.3:n.11712-34G>A
NM_206933.2:c.11712-34G>A NP_996816.2:n.11712-34G>A
NM_206933.3:c.11712-34G>A NP_996816.2:n.11712-34G>A
NM_206933.4:c.11712-34G>A MANE Select NP_996816.3:n.11712-34G>A
Search 100 bp 5'
Search 100 bp 3'