Canonical Allele Identifier: CA182604

Gene: USH2A

Linked Data

• ClinVar Variation Id: 178581
• ClinVar RCV Id: RCV000155330 ; RCV000765070 ; RCV001276257 ; RCV001381659 ; RCV001376456 ; RCV003479024
• dbSNP Id: rs139311927
• ExAC: 1:216363583 C / T
• gnomAD v2: 1-216363583-C-T
• gnomAD v3: 1-216190241-C-T
• gnomAD v4: 1-216190241-C-T
• MyVariant Identifiers: chr1:g.216363583C>T (hg19) ; chr1:g.216190241C>T (hg38)
• PubMed: PMID:24154662

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216190241C>T , CM000663.2:g.216190241C>T	GRCh38
NC_000001.10:g.216363583C>T , CM000663.1:g.216363583C>T	GRCh37
NC_000001.9:g.214430206C>T	NCBI36
NG_009497.1:g.238156G>A
NG_009497.2:g.238208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4378G>A MANE Select	ENSP00000305941.3:p.Gly1460Arg
ENST00000674083.1:c.4378G>A	ENSP00000501296.1:p.Gly1460Arg
ENST00000307340.7:c.4378G>A	ENSP00000305941.3:p.Gly1460Arg
ENST00000366942.3:c.4378G>A	ENSP00000355909.3:p.Gly1460Arg
NM_007123.5:c.4378G>A	NP_009054.5:p.Gly1460Arg
NM_206933.2:c.4378G>A	NP_996816.2:p.Gly1460Arg
NM_206933.3:c.4378G>A	NP_996816.2:p.Gly1460Arg
NM_007123.6:c.4378G>A	NP_009054.6:p.Gly1460Arg
NM_206933.4:c.4378G>A MANE Select	NP_996816.3:p.Gly1460Arg