Canonical Allele Identifier: CA1396011
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216200118A>C
GRCh37 chr1:g.216373460A>C
Revel Score:
ENST00000307340 (MANE Select) 0.106
ENST00000366943 0.106
ENST00000366942 0.106
gnomAD v2:
1:216373460 A / C
gnomAD v3:
1:216200118 A / C
gnomAD v4:
chr1-216200118-A-C
Joint Max Group AF 0.00003779 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00003635 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216200118A>C , CM000663.2:g.216200118A>C GRCh38
NC_000001.10:g.216373460A>C , CM000663.1:g.216373460A>C GRCh37
NC_000001.9:g.214440083A>C NCBI36
NG_009497.1:g.228279T>G
NG_009497.2:g.228331T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3320T>G (USH2A) MANE Select ENSP00000305941.3:p.Ile1107Ser
ENST00000674083.1:c.3320T>G (USH2A) ENSP00000501296.1:p.Ile1107Ser
ENST00000307340.7:c.3320T>G (USH2A) ENSP00000305941.3:p.Ile1107Ser
ENST00000366942.3:c.3320T>G (USH2A) ENSP00000355909.3:p.Ile1107Ser
NM_007123.5:c.3320T>G (USH2A) NP_009054.5:p.Ile1107Ser
NM_206933.2:c.3320T>G (USH2A) NP_996816.2:p.Ile1107Ser
XR_922595.1:n.355-3912A>C (USH2A-AS1)
XR_922596.1:n.354+4193A>C (USH2A-AS1)
XR_922597.1:n.354+4193A>C (USH2A-AS1)
XR_922598.1:n.485-3912A>C (USH2A-AS1)
XR_922595.3:n.1077-3912A>C (USH2A-AS1)
XR_922596.3:n.1076+4193A>C (USH2A-AS1)
NM_206933.3:c.3320T>G (USH2A) NP_996816.2:p.Ile1107Ser
NM_007123.6:c.3320T>G (USH2A) NP_009054.6:p.Ile1107Ser
NM_206933.4:c.3320T>G (USH2A) MANE Select NP_996816.3:p.Ile1107Ser
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