Canonical Allele Identifier: CA179531

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166467
• ClinVar RCV Id: RCV000152591 ; RCV000756883
• dbSNP Id: rs139100097
• ExAC: 1:216019284 T / C
• gnomAD v2: 1-216019284-T-C
• gnomAD v3: 1-215845942-T-C
• gnomAD v4: 1-215845942-T-C
• MyVariant Identifiers: chr1:g.216019284T>C (hg19) ; chr1:g.215845942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215845942T>C , CM000663.2:g.215845942T>C	GRCh38
NC_000001.10:g.216019284T>C , CM000663.1:g.216019284T>C	GRCh37
NC_000001.9:g.214085907T>C	NCBI36
NG_009497.1:g.582455A>G
NG_009497.2:g.582507A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.8937A>G MANE Select	ENSP00000305941.3:p.Val2979=
ENST00000674083.1:c.8937A>G	ENSP00000501296.1:p.Val2979=
ENST00000307340.7:c.8937A>G	ENSP00000305941.3:p.Val2979=
NM_206933.2:c.8937A>G	NP_996816.2:p.Val2979=
NM_206933.3:c.8937A>G	NP_996816.2:p.Val2979=
NM_206933.4:c.8937A>G MANE Select	NP_996816.3:p.Val2979=