Canonical Allele Identifier: CA228956

Gene: USH2A

Linked Data

• ClinVar Variation Id: 100610
• ClinVar RCV Id: RCV000087007 ; RCV001074825 ; RCV001376202 ; RCV002469009 ; RCV003445508
• dbSNP Id: rs137853923
• ExAC: 1:215814078 T / C
• gnomAD v2: 1-215814078-T-C
• gnomAD v3: 1-215640736-T-C
• gnomAD v4: 1-215640736-T-C
• MyVariant Identifiers: chr1:g.215814078T>C (hg19) ; chr1:g.215640736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640736T>C , CM000663.2:g.215640736T>C	GRCh38
NC_000001.10:g.215814078T>C , CM000663.1:g.215814078T>C	GRCh37
NC_000001.9:g.213880701T>C	NCBI36
NG_009497.1:g.787661A>G
NG_009497.2:g.787713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-2A>G MANE Select	ENSP00000305941.3:n.14792-2A>G
ENST00000674083.1:c.14792-2A>G	ENSP00000501296.1:n.14792-2A>G
ENST00000307340.7:c.14792-2A>G	ENSP00000305941.3:n.14792-2A>G
NM_206933.2:c.14792-2A>G	NP_996816.2:n.14792-2A>G
NM_206933.3:c.14792-2A>G	NP_996816.2:n.14792-2A>G
NM_206933.4:c.14792-2A>G MANE Select	NP_996816.3:n.14792-2A>G