Canonical Allele Identifier: CA143640

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48609
• ClinVar RCV Id: RCV000041935 ; RCV000879540 ; RCV001101202 ; RCV001101203 ; RCV003888412
• dbSNP Id: rs3767698
• ExAC: 1:216498911 A / C
• gnomAD v2: 1-216498911-A-C
• gnomAD v3: 1-216325569-A-C
• gnomAD v4: 1-216325569-A-C
• MyVariant Identifiers: chr1:g.216498911A>C (hg19) ; chr1:g.216325569A>C (hg38)
• PubMed: PMID:19023448 ; PMID:19737284

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325569A>C , CM000663.2:g.216325569A>C	GRCh38
NC_000001.10:g.216498911A>C , CM000663.1:g.216498911A>C	GRCh37
NC_000001.9:g.214565534A>C	NCBI36
NG_009497.1:g.102828T>G
NG_009497.2:g.102880T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.879T>G MANE Select	ENSP00000305941.3:p.Leu293=
ENST00000674083.1:c.879T>G	ENSP00000501296.1:p.Leu293=
ENST00000307340.7:c.879T>G	ENSP00000305941.3:p.Leu293=
ENST00000366942.3:c.879T>G	ENSP00000355909.3:p.Leu293=
NM_007123.5:c.879T>G	NP_009054.5:p.Leu293=
NM_206933.2:c.879T>G	NP_996816.2:p.Leu293=
NM_206933.3:c.879T>G	NP_996816.2:p.Leu293=
NM_007123.6:c.879T>G	NP_009054.6:p.Leu293=
NM_206933.4:c.879T>G MANE Select	NP_996816.3:p.Leu293=