Canonical Allele Identifier: CA1394910
Gene: USH2A HGNC NCBI
ClinVar RCV:
RCV003554895
ClinVar Variation:
2734087
dbSNP:
780840434
gnomAD v2:
1:216108020 T / C
gnomAD v3:
1:215934678 T / C
gnomAD v4:
chr1-215934678-T-C
MyVariant.info:
GRCh38 chr1:g.215934678T>C
GRCh37 chr1:g.216108020T>C
Revel Score:
ENST00000307340 (MANE Select) 0.605
ENST00000366943 0.605
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215934678T>C , CM000663.2:g.215934678T>C GRCh38
NC_000001.10:g.216108020T>C , CM000663.1:g.216108020T>C GRCh37
NC_000001.9:g.214174643T>C NCBI36
NG_009497.1:g.493719A>G
NG_009497.2:g.493771A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.7238A>G MANE Select ENSP00000305941.3:p.Asn2413Ser
ENST00000674083.1:c.7238A>G ENSP00000501296.1:p.Asn2413Ser
ENST00000307340.7:c.7238A>G ENSP00000305941.3:p.Asn2413Ser
NM_206933.2:c.7238A>G NP_996816.2:p.Asn2413Ser
NM_206933.3:c.7238A>G NP_996816.2:p.Asn2413Ser
NM_206933.4:c.7238A>G MANE Select NP_996816.3:p.Asn2413Ser
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