Canonical Allele Identifier: CA143259

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48377
• ClinVar RCV Id: RCV001517697 ; RCV002490581 ; RCV003887882
• dbSNP Id: rs11120616
• ExAC: 1:215916563 G / A
• gnomAD v2: 1-215916563-G-A
• gnomAD v3: 1-215743221-G-A
• gnomAD v4: 1-215743221-G-A
• MyVariant Identifiers: chr1:g.215916563G>A (hg19) ; chr1:g.215743221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743221G>A , CM000663.2:g.215743221G>A	GRCh38
NC_000001.10:g.215916563G>A , CM000663.1:g.215916563G>A	GRCh37
NC_000001.9:g.213983186G>A	NCBI36
NG_009497.1:g.685176C>T
NG_009497.2:g.685228C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.11504C>T MANE Select	ENSP00000305941.3:p.Thr3835Ile
ENST00000674083.1:c.11504C>T	ENSP00000501296.1:p.Thr3835Ile
ENST00000307340.7:c.11504C>T	ENSP00000305941.3:p.Thr3835Ile
NM_206933.2:c.11504C>T	NP_996816.2:p.Thr3835Ile
NM_206933.3:c.11504C>T	NP_996816.2:p.Thr3835Ile
NM_206933.4:c.11504C>T MANE Select	NP_996816.3:p.Thr3835Ile