Canonical Allele Identifier: CA1395802
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.216196680G>A
GRCh37 chr1:g.216370022G>A
Revel Score:
ENST00000307340 (MANE Select) 0.295
ENST00000366943 0.295
ENST00000366942 0.295
gnomAD v2:
1:216370022 G / A
gnomAD v3:
1:216196680 G / A
gnomAD v4:
chr1-216196680-G-A
Joint Max Group AF 0.00000803 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar Allele:
1039821
ClinVar RCV:
RCV001365783
RCV001376389
RCV003155401
ClinVar Variation:
1056888
dbSNP:
751479180
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216196680G>A , CM000663.2:g.216196680G>A GRCh38
NC_000001.10:g.216370022G>A , CM000663.1:g.216370022G>A GRCh37
NC_000001.9:g.214436645G>A NCBI36
NG_009497.1:g.231717C>T
NG_009497.2:g.231769C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.4124C>T (USH2A) MANE Select ENSP00000305941.3:p.Ser1375Leu
ENST00000674083.1:c.4124C>T (USH2A) ENSP00000501296.1:p.Ser1375Leu
ENST00000307340.7:c.4124C>T (USH2A) ENSP00000305941.3:p.Ser1375Leu
ENST00000366942.3:c.4124C>T (USH2A) ENSP00000355909.3:p.Ser1375Leu
NM_007123.5:c.4124C>T (USH2A) NP_009054.5:p.Ser1375Leu
NM_206933.2:c.4124C>T (USH2A) NP_996816.2:p.Ser1375Leu
XR_922595.1:n.354+755G>A (USH2A-AS1)
XR_922596.1:n.354+755G>A (USH2A-AS1)
XR_922597.1:n.354+755G>A (USH2A-AS1)
XR_922598.1:n.484+755G>A (USH2A-AS1)
XR_922595.3:n.1076+755G>A (USH2A-AS1)
XR_922596.3:n.1076+755G>A (USH2A-AS1)
NM_206933.3:c.4124C>T (USH2A) NP_996816.2:p.Ser1375Leu
NM_007123.6:c.4124C>T (USH2A) NP_009054.6:p.Ser1375Leu
NM_206933.4:c.4124C>T (USH2A) MANE Select NP_996816.3:p.Ser1375Leu
Search 100 bp 5'
Search 100 bp 3'