Canonical Allele Identifier: CA276181

Gene: USH2A

Linked Data

• ClinVar Variation Id: 209203
• ClinVar RCV Id: RCV000191142 ; RCV000484923 ; RCV000504830 ; RCV000675180 ; RCV001002723 ; RCV001073310 ; RCV001804928
• dbSNP Id: rs368049814
• ExAC: 1:215960057 C / T
• gnomAD v2: 1-215960057-C-T
• gnomAD v3: 1-215786715-C-T
• gnomAD v4: 1-215786715-C-T
• MyVariant Identifiers: chr1:g.215960057C>T (hg19) ; chr1:g.215786715C>T (hg38)
• PubMed: PMID:23891399 ; PMID:24088041 ; PMID:24265693 ; PMID:26633545 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215786715C>T , CM000663.2:g.215786715C>T	GRCh38
NC_000001.10:g.215960057C>T , CM000663.1:g.215960057C>T	GRCh37
NC_000001.9:g.214026680C>T	NCBI36
NG_009497.1:g.641682G>A
NG_009497.2:g.641734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10342G>A MANE Select	ENSP00000305941.3:p.Glu3448Lys
ENST00000674083.1:c.10342G>A	ENSP00000501296.1:p.Glu3448Lys
ENST00000307340.7:c.10342G>A	ENSP00000305941.3:p.Glu3448Lys
NM_206933.2:c.10342G>A	NP_996816.2:p.Glu3448Lys
NM_206933.3:c.10342G>A	NP_996816.2:p.Glu3448Lys
NM_206933.4:c.10342G>A MANE Select	NP_996816.3:p.Glu3448Lys