Canonical Allele Identifier: CA344841390
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3028646
ClinVar RCV Id: RCV003890511
dbSNP Id: rs150600947
gnomAD v2: 1-215844540-G-T
gnomAD v4: 1-215671198-G-T
COSMIC: COSM4028091 COSM4028092
MyVariant Identifiers: chr1:g.215844540G>T (hg19) chr1:g.215671198G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215671198G>T , CM000663.2:g.215671198G>T GRCh38
NC_000001.10:g.215844540G>T , CM000663.1:g.215844540G>T GRCh37
NC_000001.9:g.213911163G>T NCBI36
NG_009497.1:g.757199C>A
NG_009497.2:g.757251C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13907C>A MANE Select ENSP00000305941.3:p.Pro4636His
ENST00000674083.1:c.13907C>A ENSP00000501296.1:p.Pro4636His
ENST00000307340.7:c.13907C>A ENSP00000305941.3:p.Pro4636His
NM_206933.2:c.13907C>A NP_996816.2:p.Pro4636His
NM_206933.3:c.13907C>A NP_996816.2:p.Pro4636His
NM_206933.4:c.13907C>A MANE Select NP_996816.3:p.Pro4636His
Search 100 bp 5'
Search 100 bp 3'