Canonical Allele Identifier: CA344864933

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1390049
• ClinVar RCV Id: RCV001917501
• dbSNP Id: rs759186102
• gnomAD v4: 1-216247019-C-T
• MyVariant Identifiers: chr1:g.216420361C>T (hg19) ; chr1:g.216247019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247019C>T , CM000663.2:g.216247019C>T	GRCh38
NC_000001.10:g.216420361C>T , CM000663.1:g.216420361C>T	GRCh37
NC_000001.9:g.214486984C>T	NCBI36
NG_009497.1:g.181378G>A
NG_009497.2:g.181430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2375G>A MANE Select	ENSP00000305941.3:p.Cys792Tyr
ENST00000674083.1:c.2375G>A	ENSP00000501296.1:p.Cys792Tyr
ENST00000307340.7:c.2375G>A	ENSP00000305941.3:p.Cys792Tyr
ENST00000366942.3:c.2375G>A	ENSP00000355909.3:p.Cys792Tyr
NM_007123.5:c.2375G>A	NP_009054.5:p.Cys792Tyr
NM_206933.2:c.2375G>A	NP_996816.2:p.Cys792Tyr
NM_206933.3:c.2375G>A	NP_996816.2:p.Cys792Tyr
NM_007123.6:c.2375G>A	NP_009054.6:p.Cys792Tyr
NM_206933.4:c.2375G>A MANE Select	NP_996816.3:p.Cys792Tyr