Canonical Allele Identifier: CA37409897
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs149481255
gnomAD v3: 1-215670903-C-G
gnomAD v4: 1-215670903-C-G
MyVariant Identifiers: chr1:g.215670903C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215670903C>G , CM000663.2:g.215670903C>G GRCh38
NC_000001.10:g.215844245C>G , CM000663.1:g.215844245C>G GRCh37
NC_000001.9:g.213910868C>G NCBI36
NG_009497.1:g.757494G>C
NG_009497.2:g.757546G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14133+69G>C MANE Select ENSP00000305941.3:n.14133+69G>C
ENST00000674083.1:c.14133+69G>C ENSP00000501296.1:n.14133+69G>C
ENST00000307340.7:c.14133+69G>C ENSP00000305941.3:n.14133+69G>C
NM_206933.2:c.14133+69G>C NP_996816.2:n.14133+69G>C
NM_206933.3:c.14133+69G>C NP_996816.2:n.14133+69G>C
NM_206933.4:c.14133+69G>C MANE Select NP_996816.3:n.14133+69G>C
Search 100 bp 5'
Search 100 bp 3'