Canonical Allele Identifier: CA423427803
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1577130
ClinVar RCV Id: RCV002087827
dbSNP Id: rs1360642172
gnomAD v2: 1-215847696-C-T
gnomAD v3: 1-215674354-C-T
gnomAD v4: 1-215674354-C-T
MyVariant Identifiers: chr1:g.215847696C>T (hg19) chr1:g.215674354C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674354C>T , CM000663.2:g.215674354C>T GRCh38
NC_000001.10:g.215847696C>T , CM000663.1:g.215847696C>T GRCh37
NC_000001.9:g.213914319C>T NCBI36
NG_009497.1:g.754043G>A
NG_009497.2:g.754095G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.13557G>A MANE Select ENSP00000305941.3:p.Leu4519=
ENST00000674083.1:c.13557G>A ENSP00000501296.1:p.Leu4519=
ENST00000307340.7:c.13557G>A ENSP00000305941.3:p.Leu4519=
NM_206933.2:c.13557G>A NP_996816.2:p.Leu4519=
NM_206933.3:c.13557G>A NP_996816.2:p.Leu4519=
NM_206933.4:c.13557G>A MANE Select NP_996816.3:p.Leu4519=
Search 100 bp 5'
Search 100 bp 3'