Canonical Allele Identifier: CA344865128
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1186354124
gnomAD v3: 1-216247083-C-G
gnomAD v4: 1-216247083-C-G
MyVariant Identifiers: chr1:g.216420425C>G (hg19) chr1:g.216247083C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216247083C>G , CM000663.2:g.216247083C>G GRCh38
NC_000001.10:g.216420425C>G , CM000663.1:g.216420425C>G GRCh37
NC_000001.9:g.214487048C>G NCBI36
NG_009497.1:g.181314G>C
NG_009497.2:g.181366G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.2311G>C MANE Select ENSP00000305941.3:p.Glu771Gln
ENST00000674083.1:c.2311G>C ENSP00000501296.1:p.Glu771Gln
ENST00000307340.7:c.2311G>C ENSP00000305941.3:p.Glu771Gln
ENST00000366942.3:c.2311G>C ENSP00000355909.3:p.Glu771Gln
NM_007123.5:c.2311G>C NP_009054.5:p.Glu771Gln
NM_206933.2:c.2311G>C NP_996816.2:p.Glu771Gln
NM_206933.3:c.2311G>C NP_996816.2:p.Glu771Gln
NM_007123.6:c.2311G>C NP_009054.6:p.Glu771Gln
NM_206933.4:c.2311G>C MANE Select NP_996816.3:p.Glu771Gln
Search 100 bp 5'
Search 100 bp 3'