Canonical Allele Identifier: CA185250

Gene: USH2A

Linked Data

• ClinVar Variation Id: 179843
• ClinVar RCV Id: RCV000156642 ; RCV000763828 ; RCV001271141 ; RCV002516341 ; RCV003888605
• dbSNP Id: rs727505166
• ExAC: 1:215953220 G / T
• gnomAD v2: 1-215953220-G-T
• gnomAD v3: 1-215779878-G-T
• gnomAD v4: 1-215779878-G-T
• MyVariant Identifiers: chr1:g.215953220G>T (hg19) ; chr1:g.215779878G>T (hg38)
• PubMed: PMID:23967202

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779878G>T , CM000663.2:g.215779878G>T	GRCh38
NC_000001.10:g.215953220G>T , CM000663.1:g.215953220G>T	GRCh37
NC_000001.9:g.214019843G>T	NCBI36
NG_009497.1:g.648519C>A
NG_009497.2:g.648571C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10904C>A MANE Select	ENSP00000305941.3:p.Thr3635Asn
ENST00000674083.1:c.10904C>A	ENSP00000501296.1:p.Thr3635Asn
ENST00000307340.7:c.10904C>A	ENSP00000305941.3:p.Thr3635Asn
NM_206933.2:c.10904C>A	NP_996816.2:p.Thr3635Asn
NM_206933.3:c.10904C>A	NP_996816.2:p.Thr3635Asn
NM_206933.4:c.10904C>A MANE Select	NP_996816.3:p.Thr3635Asn