Canonical Allele Identifier: CA344848080

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438009
• ClinVar RCV Id: RCV000504779 ; RCV001380977 ; RCV001542725
• dbSNP Id: rs762159022
• gnomAD v4: 1-215674957-G-T
• MyVariant Identifiers: chr1:g.215848299G>T (hg19) ; chr1:g.215674957G>T (hg38)
• PubMed: PMID:18273898 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674957G>T , CM000663.2:g.215674957G>T	GRCh38
NC_000001.10:g.215848299G>T , CM000663.1:g.215848299G>T	GRCh37
NC_000001.9:g.213914922G>T	NCBI36
NG_009497.1:g.753440C>A
NG_009497.2:g.753492C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12954C>A MANE Select	ENSP00000305941.3:p.Tyr4318Ter
ENST00000674083.1:c.12954C>A	ENSP00000501296.1:p.Tyr4318Ter
ENST00000307340.7:c.12954C>A	ENSP00000305941.3:p.Tyr4318Ter
NM_206933.2:c.12954C>A	NP_996816.2:p.Tyr4318Ter
NM_206933.3:c.12954C>A	NP_996816.2:p.Tyr4318Ter
NM_206933.4:c.12954C>A MANE Select	NP_996816.3:p.Tyr4318Ter