Canonical Allele Identifier: CA1396311

Gene: USH2A

Linked Data

• ClinVar Variation Id: 418533
• ClinVar RCV Id: RCV000480360 ; RCV000504759 ; RCV001074179 ; RCV003463976
• dbSNP Id: rs137954284
• ExAC: 1:216424331 C / T
• gnomAD v2: 1-216424331-C-T
• gnomAD v3: 1-216250989-C-T
• gnomAD v4: 1-216250989-C-T
• MyVariant Identifiers: chr1:g.216424331C>T (hg19) ; chr1:g.216250989C>T (hg38)
• ERepo: CA1396311/MONDO:0019501/005
• PubMed: PMID:20591486 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216250989C>T , CM000663.2:g.216250989C>T	GRCh38
NC_000001.10:g.216424331C>T , CM000663.1:g.216424331C>T	GRCh37
NC_000001.9:g.214490954C>T	NCBI36
NG_009497.1:g.177408G>A
NG_009497.2:g.177460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2081G>A MANE Select	ENSP00000305941.3:p.Cys694Tyr
ENST00000674083.1:c.2081G>A	ENSP00000501296.1:p.Cys694Tyr
ENST00000307340.7:c.2081G>A	ENSP00000305941.3:p.Cys694Tyr
ENST00000366942.3:c.2081G>A	ENSP00000355909.3:p.Cys694Tyr
NM_007123.5:c.2081G>A	NP_009054.5:p.Cys694Tyr
NM_206933.2:c.2081G>A	NP_996816.2:p.Cys694Tyr
NM_206933.3:c.2081G>A	NP_996816.2:p.Cys694Tyr
NM_007123.6:c.2081G>A	NP_009054.6:p.Cys694Tyr
NM_206933.4:c.2081G>A MANE Select	NP_996816.3:p.Cys694Tyr