Canonical Allele Identifier: CA10576374

Gene: USH2A

Linked Data

• ClinVar Variation Id: 228311
• ClinVar RCV Id: RCV000221320 ; RCV001376369
• dbSNP Id: rs577938494
• COSMIC: COSM388114
• MyVariant Identifiers: chr1:g.215848553T>G (hg19) ; chr1:g.215675211T>G (hg38)
• PubMed: PMID:25575603

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675211T>G , CM000663.2:g.215675211T>G	GRCh38
NC_000001.10:g.215848553T>G , CM000663.1:g.215848553T>G	GRCh37
NC_000001.9:g.213915176T>G	NCBI36
NG_009497.1:g.753186A>C
NG_009497.2:g.753238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12700A>C MANE Select	ENSP00000305941.3:p.Thr4234Pro
ENST00000674083.1:c.12700A>C	ENSP00000501296.1:p.Thr4234Pro
ENST00000307340.7:c.12700A>C	ENSP00000305941.3:p.Thr4234Pro
NM_206933.2:c.12700A>C	NP_996816.2:p.Thr4234Pro
NM_206933.3:c.12700A>C	NP_996816.2:p.Thr4234Pro
NM_206933.4:c.12700A>C MANE Select	NP_996816.3:p.Thr4234Pro