Canonical Allele Identifier: CA37448782
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1223531
ClinVar RCV Id: RCV001598540
dbSNP Id: rs115806383
gnomAD v2: 1-215972526-C-T
gnomAD v3: 1-215799184-C-T
gnomAD v4: 1-215799184-C-T
MyVariant Identifiers: chr1:g.215972526C>T (hg19) chr1:g.215799184C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215799184C>T , CM000663.2:g.215799184C>T GRCh38
NC_000001.10:g.215972526C>T , CM000663.1:g.215972526C>T GRCh37
NC_000001.9:g.214039149C>T NCBI36
NG_009497.1:g.629213G>A
NG_009497.2:g.629265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9740-59G>A MANE Select ENSP00000305941.3:n.9740-59G>A
ENST00000674083.1:c.9740-59G>A ENSP00000501296.1:n.9740-59G>A
ENST00000307340.7:c.9740-59G>A ENSP00000305941.3:n.9740-59G>A
NM_206933.2:c.9740-59G>A NP_996816.2:n.9740-59G>A
NM_206933.3:c.9740-59G>A NP_996816.2:n.9740-59G>A
NM_206933.4:c.9740-59G>A MANE Select NP_996816.3:n.9740-59G>A
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