Canonical Allele Identifier: CA179580
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216217501G>A
GRCh37 chr1:g.216390843G>A
Revel Score:
ENST00000307340 (MANE Select) 0.263
ENST00000366943 0.263
ENST00000366942 0.263
gnomAD v2:
1:216390843 G / A
gnomAD v3:
1:216217501 G / A
gnomAD v4:
chr1-216217501-G-A
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216217501G>A , CM000663.2:g.216217501G>A GRCh38
NC_000001.10:g.216390843G>A , CM000663.1:g.216390843G>A GRCh37
NC_000001.9:g.214457466G>A NCBI36
NG_009497.1:g.210896C>T
NG_009497.2:g.210948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3043C>T (USH2A) MANE Select ENSP00000305941.3:p.His1015Tyr
ENST00000674083.1:c.3043C>T (USH2A) ENSP00000501296.1:p.His1015Tyr
ENST00000307340.7:c.3043C>T (USH2A) ENSP00000305941.3:p.His1015Tyr
ENST00000366942.3:c.3043C>T (USH2A) ENSP00000355909.3:p.His1015Tyr
NM_007123.5:c.3043C>T (USH2A) NP_009054.5:p.His1015Tyr
NM_206933.2:c.3043C>T (USH2A) NP_996816.2:p.His1015Tyr
XR_922596.1:n.355-7886G>A (USH2A-AS1)
XR_922597.1:n.355-20334G>A (USH2A-AS1)
XR_922596.3:n.1077-7886G>A (USH2A-AS1)
NM_206933.3:c.3043C>T (USH2A) NP_996816.2:p.His1015Tyr
NM_007123.6:c.3043C>T (USH2A) NP_009054.6:p.His1015Tyr
NM_206933.4:c.3043C>T (USH2A) MANE Select NP_996816.3:p.His1015Tyr
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