Canonical Allele Identifier: CA246929
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 198341
ClinVar RCV Id: RCV000216357 RCV000879539 RCV001073767 RCV001449650 RCV004537493
dbSNP Id: rs138879998
ExAC: 1:215847775 C / T
gnomAD v2: 1-215847775-C-T
gnomAD v3: 1-215674433-C-T
gnomAD v4: 1-215674433-C-T
MyVariant Identifiers: chr1:g.215847775C>T (hg19) chr1:g.215674433C>T (hg38)
PubMed: PMID:23891399 PMID:24938718
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674433C>T , CM000663.2:g.215674433C>T GRCh38
NC_000001.10:g.215847775C>T , CM000663.1:g.215847775C>T GRCh37
NC_000001.9:g.213914398C>T NCBI36
NG_009497.1:g.753964G>A
NG_009497.2:g.754016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13478G>A MANE Select ENSP00000305941.3:p.Arg4493His
ENST00000674083.1:c.13478G>A ENSP00000501296.1:p.Arg4493His
ENST00000307340.7:c.13478G>A ENSP00000305941.3:p.Arg4493His
NM_206933.2:c.13478G>A NP_996816.2:p.Arg4493His
NM_206933.3:c.13478G>A NP_996816.2:p.Arg4493His
NM_206933.4:c.13478G>A MANE Select NP_996816.3:p.Arg4493His
Search 100 bp 5'
Search 100 bp 3'