Canonical Allele Identifier: CA423308591
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 755319
ClinVar RCV Id: RCV000932731
dbSNP Id: rs1328841882
gnomAD v4: 1-215817015-G-A
MyVariant Identifiers: chr1:g.215990357G>A (hg19) chr1:g.215817015G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817015G>A , CM000663.2:g.215817015G>A GRCh38
NC_000001.10:g.215990357G>A , CM000663.1:g.215990357G>A GRCh37
NC_000001.9:g.214056980G>A NCBI36
NG_009497.1:g.611382C>T
NG_009497.2:g.611434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9552C>T MANE Select ENSP00000305941.3:p.Cys3184=
ENST00000674083.1:c.9552C>T ENSP00000501296.1:p.Cys3184=
ENST00000307340.7:c.9552C>T ENSP00000305941.3:p.Cys3184=
NM_206933.2:c.9552C>T NP_996816.2:p.Cys3184=
NM_206933.3:c.9552C>T NP_996816.2:p.Cys3184=
NM_206933.4:c.9552C>T MANE Select NP_996816.3:p.Cys3184=
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