Canonical Allele Identifier: CA182602
Gene: USH2A HGNC NCBI
USH2A-AS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216084817T>C
GRCh37 chr1:g.216258159T>C
Revel Score:
ENST00000307340 (MANE Select) 0.020
ENST00000366943 0.020
gnomAD v2:
1:216258159 T / C
gnomAD v3:
1:216084817 T / C
gnomAD v4:
chr1-216084817-T-C
Joint Max Group AF 0.00238912 (AFR)
Genomes Max Group AF 0.00217831 (AFR)
Exomes Max Group AF 0.00237855 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216084817T>C , CM000663.2:g.216084817T>C GRCh38
NC_000001.10:g.216258159T>C , CM000663.1:g.216258159T>C GRCh37
NC_000001.9:g.214324782T>C NCBI36
NG_009497.1:g.343580A>G
NG_009497.2:g.343632A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.5048A>G (USH2A) MANE Select ENSP00000305941.3:p.Asn1683Ser
ENST00000674083.1:c.5048A>G (USH2A) ENSP00000501296.1:p.Asn1683Ser
ENST00000307340.7:c.5048A>G (USH2A) ENSP00000305941.3:p.Asn1683Ser
ENST00000463147.1:n.292A>G (USH2A)
ENST00000481786.1:n.290A>G (USH2A)
NM_206933.2:c.5048A>G (USH2A) NP_996816.2:p.Asn1683Ser
NR_125992.1:n.266-1905T>C (USH2A-AS2)
NR_125993.1:n.137-1905T>C (USH2A-AS2)
NM_206933.3:c.5048A>G (USH2A) NP_996816.2:p.Asn1683Ser
NM_206933.4:c.5048A>G (USH2A) MANE Select NP_996816.3:p.Asn1683Ser
Search 100 bp 5'
Search 100 bp 3'