Canonical Allele Identifier: CA143403

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48465
• ClinVar RCV Id: RCV000041788 ; RCV001276136 ; RCV002504925 ; RCV002513599 ; RCV003460550
• dbSNP Id: rs111033419
• ExAC: 1:215802179 T / C
• gnomAD v2: 1-215802179-T-C
• gnomAD v3: 1-215628837-T-C
• gnomAD v4: 1-215628837-T-C
• MyVariant Identifiers: chr1:g.215802179T>C (hg19) ; chr1:g.215628837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215628837T>C , CM000663.2:g.215628837T>C	GRCh38
NC_000001.10:g.215802179T>C , CM000663.1:g.215802179T>C	GRCh37
NC_000001.9:g.213868802T>C	NCBI36
NG_009497.1:g.799560A>G
NG_009497.2:g.799612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.15496A>G MANE Select	ENSP00000305941.3:p.Ile5166Val
ENST00000674083.1:c.15568A>G	ENSP00000501296.1:p.Ile5190Val
ENST00000307340.7:c.15496A>G	ENSP00000305941.3:p.Ile5166Val
NM_206933.2:c.15496A>G	NP_996816.2:p.Ile5166Val
NM_206933.3:c.15496A>G	NP_996816.2:p.Ile5166Val
NM_206933.4:c.15496A>G MANE Select	NP_996816.3:p.Ile5166Val