Canonical Allele Identifier: CA1396771
Gene: USH2A HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216418693C>T
GRCh37 chr1:g.216592035C>T
gnomAD v2:
1:216592035 C / T
gnomAD v3:
1:216418693 C / T
gnomAD v4:
chr1-216418693-C-T
Joint Max Group AF 0.00004292 (AMR)
Genomes Max Group AF 0.00012913 (AMR)
Exomes Max Group AF 0.00000837 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216418693C>T , CM000663.2:g.216418693C>T GRCh38
NC_000001.10:g.216592035C>T , CM000663.1:g.216592035C>T GRCh37
NC_000001.9:g.214658658C>T NCBI36
NG_009497.1:g.9704G>A
NG_009497.2:g.9756G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.486-14G>A MANE Select ENSP00000305941.3:n.486-14G>A
ENST00000674083.1:c.486-14G>A ENSP00000501296.1:n.486-14G>A
ENST00000307340.7:c.486-14G>A ENSP00000305941.3:n.486-14G>A
ENST00000366942.3:c.486-14G>A ENSP00000355909.3:n.486-14G>A
NM_007123.5:c.486-14G>A NP_009054.5:n.486-14G>A
NM_206933.2:c.486-14G>A NP_996816.2:n.486-14G>A
NM_206933.3:c.486-14G>A NP_996816.2:n.486-14G>A
NM_007123.6:c.486-14G>A NP_009054.6:n.486-14G>A
NM_206933.4:c.486-14G>A MANE Select NP_996816.3:n.486-14G>A
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