Canonical Allele Identifier: CA179576
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216200043C>T
GRCh37 chr1:g.216373385C>T
Revel Score:
ENST00000307340 (MANE Select) 0.573
ENST00000366943 0.573
ENST00000366942 0.573
gnomAD v2:
1:216373385 C / T
gnomAD v3:
1:216200043 C / T
gnomAD v4:
chr1-216200043-C-T
Joint Max Group AF 0.00643178 (AFR)
Genomes Max Group AF 0.00614655 (AFR)
Exomes Max Group AF 0.00633987 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216200043C>T , CM000663.2:g.216200043C>T GRCh38
NC_000001.10:g.216373385C>T , CM000663.1:g.216373385C>T GRCh37
NC_000001.9:g.214440008C>T NCBI36
NG_009497.1:g.228354G>A
NG_009497.2:g.228406G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3395G>A (USH2A) MANE Select ENSP00000305941.3:p.Gly1132Asp
ENST00000674083.1:c.3395G>A (USH2A) ENSP00000501296.1:p.Gly1132Asp
ENST00000307340.7:c.3395G>A (USH2A) ENSP00000305941.3:p.Gly1132Asp
ENST00000366942.3:c.3395G>A (USH2A) ENSP00000355909.3:p.Gly1132Asp
NM_007123.5:c.3395G>A (USH2A) NP_009054.5:p.Gly1132Asp
NM_206933.2:c.3395G>A (USH2A) NP_996816.2:p.Gly1132Asp
XR_922595.1:n.355-3987C>T (USH2A-AS1)
XR_922596.1:n.354+4118C>T (USH2A-AS1)
XR_922597.1:n.354+4118C>T (USH2A-AS1)
XR_922598.1:n.485-3987C>T (USH2A-AS1)
XR_922595.3:n.1077-3987C>T (USH2A-AS1)
XR_922596.3:n.1076+4118C>T (USH2A-AS1)
NM_206933.3:c.3395G>A (USH2A) NP_996816.2:p.Gly1132Asp
NM_007123.6:c.3395G>A (USH2A) NP_009054.6:p.Gly1132Asp
NM_206933.4:c.3395G>A (USH2A) MANE Select NP_996816.3:p.Gly1132Asp
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