Canonical Allele Identifier: CA423312932
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1595862
ClinVar RCV Id: RCV002115632
dbSNP Id: rs1223585934
gnomAD v2: 1-215953222-G-A
gnomAD v4: 1-215779880-G-A
MyVariant Identifiers: chr1:g.215953222G>A (hg19) chr1:g.215779880G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779880G>A , CM000663.2:g.215779880G>A GRCh38
NC_000001.10:g.215953222G>A , CM000663.1:g.215953222G>A GRCh37
NC_000001.9:g.214019845G>A NCBI36
NG_009497.1:g.648517C>T
NG_009497.2:g.648569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10902C>T MANE Select ENSP00000305941.3:p.His3634=
ENST00000674083.1:c.10902C>T ENSP00000501296.1:p.His3634=
ENST00000307340.7:c.10902C>T ENSP00000305941.3:p.His3634=
NM_206933.2:c.10902C>T NP_996816.2:p.His3634=
NM_206933.3:c.10902C>T NP_996816.2:p.His3634=
NM_206933.4:c.10902C>T MANE Select NP_996816.3:p.His3634=
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