Canonical Allele Identifier: CA262073

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48390
• ClinVar RCV Id: RCV000412841 ; RCV000390593 ; RCV000666727 ; RCV000983997 ; RCV001003259 ; RCV001073917 ; RCV001271128
• dbSNP Id: rs397517978
• ExAC: 1:215853720 T / C
• gnomAD v2: 1-215853720-T-C
• gnomAD v3: 1-215680378-T-C
• gnomAD v4: 1-215680378-T-C
• MyVariant Identifiers: chr1:g.215853720T>C (hg19) ; chr1:g.215680378T>C (hg38)
• PubMed: PMID:18452394 ; PMID:18641288 ; PMID:22004887

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680378T>C , CM000663.2:g.215680378T>C	GRCh38
NC_000001.10:g.215853720T>C , CM000663.1:g.215853720T>C	GRCh37
NC_000001.9:g.213920343T>C	NCBI36
NG_009497.1:g.748019A>G
NG_009497.2:g.748071A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12067-2A>G MANE Select	ENSP00000305941.3:n.12067-2A>G
ENST00000674083.1:c.12067-2A>G	ENSP00000501296.1:n.12067-2A>G
ENST00000307340.7:c.12067-2A>G	ENSP00000305941.3:n.12067-2A>G
NM_206933.2:c.12067-2A>G	NP_996816.2:n.12067-2A>G
NM_206933.3:c.12067-2A>G	NP_996816.2:n.12067-2A>G
NM_206933.4:c.12067-2A>G MANE Select	NP_996816.3:n.12067-2A>G