Canonical Allele Identifier: CA1393526

Gene: USH2A

Linked Data

• ClinVar Variation Id: 229616
• ClinVar RCV Id: RCV000213372 ; RCV000504751 ; RCV001074362 ; RCV001241460 ; RCV001810438 ; RCV003462402 ; RCV004529374
• dbSNP Id: rs143696882
• ExAC: 1:215853640 C / T
• gnomAD v2: 1-215853640-C-T
• gnomAD v3: 1-215680298-C-T
• gnomAD v4: 1-215680298-C-T
• COSMIC: COSM404401
• MyVariant Identifiers: chr1:g.215853640C>T (hg19) ; chr1:g.215680298C>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680298C>T , CM000663.2:g.215680298C>T	GRCh38
NC_000001.10:g.215853640C>T , CM000663.1:g.215853640C>T	GRCh37
NC_000001.9:g.213920263C>T	NCBI36
NG_009497.1:g.748099G>A
NG_009497.2:g.748151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12145G>A MANE Select	ENSP00000305941.3:p.Ala4049Thr
ENST00000674083.1:c.12145G>A	ENSP00000501296.1:p.Ala4049Thr
ENST00000307340.7:c.12145G>A	ENSP00000305941.3:p.Ala4049Thr
NM_206933.2:c.12145G>A	NP_996816.2:p.Ala4049Thr
NM_206933.3:c.12145G>A	NP_996816.2:p.Ala4049Thr
NM_206933.4:c.12145G>A MANE Select	NP_996816.3:p.Ala4049Thr