Canonical Allele Identifier: CA184631
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179542
ClinVar RCV Id: RCV000156334 RCV000710332 RCV000668449 RCV001831975 RCV001850155
dbSNP Id: rs549796389
ExAC: 1:216061814 C / T
gnomAD v2: 1-216061814-C-T
gnomAD v3: 1-215888472-C-T
gnomAD v4: 1-215888472-C-T
MyVariant Identifiers: chr1:g.216061814C>T (hg19) chr1:g.215888472C>T (hg38)
ERepo: CA184631/MONDO:0019501/005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215888472C>T , CM000663.2:g.215888472C>T GRCh38
NC_000001.10:g.216061814C>T , CM000663.1:g.216061814C>T GRCh37
NC_000001.9:g.214128437C>T NCBI36
NG_009497.1:g.539925G>A
NG_009497.2:g.539977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.8177G>A MANE Select ENSP00000305941.3:p.Gly2726Glu
ENST00000674083.1:c.8177G>A ENSP00000501296.1:p.Gly2726Glu
ENST00000307340.7:c.8177G>A ENSP00000305941.3:p.Gly2726Glu
NM_206933.2:c.8177G>A NP_996816.2:p.Gly2726Glu
NM_206933.3:c.8177G>A NP_996816.2:p.Gly2726Glu
NM_206933.4:c.8177G>A MANE Select NP_996816.3:p.Gly2726Glu
Search 100 bp 5'
Search 100 bp 3'