Canonical Allele Identifier: CA276179
Gene: USH2A HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.215993155C>A
GRCh37 chr1:g.216166497C>A
Revel Score:
ENST00000307340 (MANE Select) 0.415
ENST00000366943 0.415
gnomAD v2:
1:216166497 C / A
gnomAD v3:
1:215993155 C / A
gnomAD v4:
chr1-215993155-C-A
Joint Max Group AF 0.00051089 (NFE)
Genomes Max Group AF 0.00053349 (NFE)
Exomes Max Group AF 0.00050177 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215993155C>A , CM000663.2:g.215993155C>A GRCh38
NC_000001.10:g.216166497C>A , CM000663.1:g.216166497C>A GRCh37
NC_000001.9:g.214233120C>A NCBI36
NG_009497.1:g.435242G>T
NG_009497.2:g.435294G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.6670G>T MANE Select ENSP00000305941.3:p.Gly2224Cys
ENST00000674083.1:c.6670G>T ENSP00000501296.1:p.Gly2224Cys
ENST00000307340.7:c.6670G>T ENSP00000305941.3:p.Gly2224Cys
NM_206933.2:c.6670G>T NP_996816.2:p.Gly2224Cys
NM_206933.3:c.6670G>T NP_996816.2:p.Gly2224Cys
NM_206933.4:c.6670G>T MANE Select NP_996816.3:p.Gly2224Cys
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