Canonical Allele Identifier: CA270139

Gene: USH2A

Linked Data

• ClinVar Variation Id: 143172
• ClinVar RCV Id: RCV000132703 ; RCV000983996 ; RCV000824779 ; RCV001073283 ; RCV001043740 ; RCV003324517
• dbSNP Id: rs527236137
• gnomAD v4: 1-215674901-G-A
• MyVariant Identifiers: chr1:g.215848243G>A (hg19) ; chr1:g.215674901G>A (hg38)
• PubMed: PMID:17085681 ; PMID:20507924 ; PMID:24498627 ; PMID:24944099 ; PMID:25649381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674901G>A , CM000663.2:g.215674901G>A	GRCh38
NC_000001.10:g.215848243G>A , CM000663.1:g.215848243G>A	GRCh37
NC_000001.9:g.213914866G>A	NCBI36
NG_009497.1:g.753496C>T
NG_009497.2:g.753548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13010C>T MANE Select	ENSP00000305941.3:p.Thr4337Met
ENST00000674083.1:c.13010C>T	ENSP00000501296.1:p.Thr4337Met
ENST00000307340.7:c.13010C>T	ENSP00000305941.3:p.Thr4337Met
NM_206933.2:c.13010C>T	NP_996816.2:p.Thr4337Met
NM_206933.3:c.13010C>T	NP_996816.2:p.Thr4337Met
NM_206933.4:c.13010C>T MANE Select	NP_996816.3:p.Thr4337Met