Canonical Allele Identifier: CA1394290
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs749993302
ExAC: 1:215990337 A / G
gnomAD v2: 1-215990337-A-G
gnomAD v4: 1-215816995-A-G
MyVariant Identifiers: chr1:g.215990337A>G (hg19) chr1:g.215816995A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215816995A>G , CM000663.2:g.215816995A>G GRCh38
NC_000001.10:g.215990337A>G , CM000663.1:g.215990337A>G GRCh37
NC_000001.9:g.214056960A>G NCBI36
NG_009497.1:g.611402T>C
NG_009497.2:g.611454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9570+2T>C MANE Select ENSP00000305941.3:n.9570+2T>C
ENST00000674083.1:c.9570+2T>C ENSP00000501296.1:n.9570+2T>C
ENST00000307340.7:c.9570+2T>C ENSP00000305941.3:n.9570+2T>C
NM_206933.2:c.9570+2T>C NP_996816.2:n.9570+2T>C
NM_206933.3:c.9570+2T>C NP_996816.2:n.9570+2T>C
NM_206933.4:c.9570+2T>C MANE Select NP_996816.3:n.9570+2T>C
Search 100 bp 5'
Search 100 bp 3'