Canonical Allele Identifier: CA143380

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48453
• ClinVar RCV Id: RCV000041776 ; RCV001509629 ; RCV001276143 ; RCV003887902 ; RCV003450809
• dbSNP Id: rs41308435
• ExAC: 1:215808022 T / C
• gnomAD v2: 1-215808022-T-C
• gnomAD v3: 1-215634680-T-C
• gnomAD v4: 1-215634680-T-C
• MyVariant Identifiers: chr1:g.215808022T>C (hg19) ; chr1:g.215634680T>C (hg38)
• PubMed: PMID:19737284

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215634680T>C , CM000663.2:g.215634680T>C	GRCh38
NC_000001.10:g.215808022T>C , CM000663.1:g.215808022T>C	GRCh37
NC_000001.9:g.213874645T>C	NCBI36
NG_009497.1:g.793717A>G
NG_009497.2:g.793769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.15076A>G MANE Select	ENSP00000305941.3:p.Lys5026Glu
ENST00000674083.1:c.15076A>G	ENSP00000501296.1:p.Lys5026Glu
ENST00000307340.7:c.15076A>G	ENSP00000305941.3:p.Lys5026Glu
NM_206933.2:c.15076A>G	NP_996816.2:p.Lys5026Glu
NM_206933.3:c.15076A>G	NP_996816.2:p.Lys5026Glu
NM_206933.4:c.15076A>G MANE Select	NP_996816.3:p.Lys5026Glu