Canonical Allele Identifier: CA262080
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48406
ClinVar RCV Id: RCV000041729 RCV003389451 RCV003450768 RCV003887890
dbSNP Id: rs397517982
gnomAD v2: 1-215848514-C-T
gnomAD v4: 1-215675172-C-T
MyVariant Identifiers: chr1:g.215848514C>T (hg19) chr1:g.215675172C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675172C>T , CM000663.2:g.215675172C>T GRCh38
NC_000001.10:g.215848514C>T , CM000663.1:g.215848514C>T GRCh37
NC_000001.9:g.213915137C>T NCBI36
NG_009497.1:g.753225G>A
NG_009497.2:g.753277G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.12739G>A MANE Select ENSP00000305941.3:p.Gly4247Arg
ENST00000674083.1:c.12739G>A ENSP00000501296.1:p.Gly4247Arg
ENST00000307340.7:c.12739G>A ENSP00000305941.3:p.Gly4247Arg
NM_206933.2:c.12739G>A NP_996816.2:p.Gly4247Arg
NM_206933.3:c.12739G>A NP_996816.2:p.Gly4247Arg
NM_206933.4:c.12739G>A MANE Select NP_996816.3:p.Gly4247Arg
Search 100 bp 5'
Search 100 bp 3'