Canonical Allele Identifier: CA344841757
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2015744
ClinVar RCV Id: RCV002846509
dbSNP Id: rs1657805957
gnomAD v3: 1-215671240-C-T
gnomAD v4: 1-215671240-C-T
MyVariant Identifiers: chr1:g.215844582C>T (hg19) chr1:g.215671240C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671240C>T , CM000663.2:g.215671240C>T GRCh38
NC_000001.10:g.215844582C>T , CM000663.1:g.215844582C>T GRCh37
NC_000001.9:g.213911205C>T NCBI36
NG_009497.1:g.757157G>A
NG_009497.2:g.757209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13865G>A MANE Select ENSP00000305941.3:p.Trp4622Ter
ENST00000674083.1:c.13865G>A ENSP00000501296.1:p.Trp4622Ter
ENST00000307340.7:c.13865G>A ENSP00000305941.3:p.Trp4622Ter
NM_206933.2:c.13865G>A NP_996816.2:p.Trp4622Ter
NM_206933.3:c.13865G>A NP_996816.2:p.Trp4622Ter
NM_206933.4:c.13865G>A MANE Select NP_996816.3:p.Trp4622Ter
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