Canonical Allele Identifier: CA344829769
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 505157
ClinVar RCV Id: RCV000606109 RCV001370845 RCV003451367 RCV003451366
dbSNP Id: rs1401744202
gnomAD v3: 1-215728356-C-T
gnomAD v4: 1-215728356-C-T
MyVariant Identifiers: chr1:g.215901698C>T (hg19) chr1:g.215728356C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728356C>T , CM000663.2:g.215728356C>T GRCh38
NC_000001.10:g.215901698C>T , CM000663.1:g.215901698C>T GRCh37
NC_000001.9:g.213968321C>T NCBI36
NG_009497.1:g.700041G>A
NG_009497.2:g.700093G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11740G>A MANE Select ENSP00000305941.3:p.Val3914Ile
ENST00000674083.1:c.11740G>A ENSP00000501296.1:p.Val3914Ile
ENST00000307340.7:c.11740G>A ENSP00000305941.3:p.Val3914Ile
NM_206933.2:c.11740G>A NP_996816.2:p.Val3914Ile
NM_206933.3:c.11740G>A NP_996816.2:p.Val3914Ile
NM_206933.4:c.11740G>A MANE Select NP_996816.3:p.Val3914Ile
Search 100 bp 5'
Search 100 bp 3'