Canonical Allele Identifier: CA344848937

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438008
• ClinVar RCV Id: RCV000505020 ; RCV000670212 ; RCV003449422 ; RCV001865635 ; RCV003449423
• dbSNP Id: rs1362058696
• gnomAD v4: 1-215675092-A-T
• MyVariant Identifiers: chr1:g.215848434A>T (hg19) ; chr1:g.215675092A>T (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675092A>T , CM000663.2:g.215675092A>T	GRCh38
NC_000001.10:g.215848434A>T , CM000663.1:g.215848434A>T	GRCh37
NC_000001.9:g.213915057A>T	NCBI36
NG_009497.1:g.753305T>A
NG_009497.2:g.753357T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12819T>A MANE Select	ENSP00000305941.3:p.Tyr4273Ter
ENST00000674083.1:c.12819T>A	ENSP00000501296.1:p.Tyr4273Ter
ENST00000307340.7:c.12819T>A	ENSP00000305941.3:p.Tyr4273Ter
NM_206933.2:c.12819T>A	NP_996816.2:p.Tyr4273Ter
NM_206933.3:c.12819T>A	NP_996816.2:p.Tyr4273Ter
NM_206933.4:c.12819T>A MANE Select	NP_996816.3:p.Tyr4273Ter