Canonical Allele Identifier: CA262120

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48601
• ClinVar RCV Id: RCV000041927 ; RCV000505137 ; RCV000664665 ; RCV000937132 ; RCV001074998
• dbSNP Id: rs111033529
• ExAC: 1:216052233 G / T
• gnomAD v2: 1-216052233-G-T
• gnomAD v3: 1-215878891-G-T
• gnomAD v4: 1-215878891-G-T
• MyVariant Identifiers: chr1:g.216052233G>T (hg19) ; chr1:g.215878891G>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215878891G>T , CM000663.2:g.215878891G>T	GRCh38
NC_000001.10:g.216052233G>T , CM000663.1:g.216052233G>T	GRCh37
NC_000001.9:g.214118856G>T	NCBI36
NG_009497.1:g.549506C>A
NG_009497.2:g.549558C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.8431C>A MANE Select	ENSP00000305941.3:p.Pro2811Thr
ENST00000674083.1:c.8431C>A	ENSP00000501296.1:p.Pro2811Thr
ENST00000307340.7:c.8431C>A	ENSP00000305941.3:p.Pro2811Thr
NM_206933.2:c.8431C>A	NP_996816.2:p.Pro2811Thr
NM_206933.3:c.8431C>A	NP_996816.2:p.Pro2811Thr
NM_206933.4:c.8431C>A MANE Select	NP_996816.3:p.Pro2811Thr