Canonical Allele Identifier: CA143281

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48391
• ClinVar RCV Id: RCV000041713 ; RCV000949878 ; RCV001271127
• dbSNP Id: rs55921307
• ExAC: 1:215853692 G / A
• gnomAD v2: 1-215853692-G-A
• gnomAD v3: 1-215680350-G-A
• gnomAD v4: 1-215680350-G-A
• COSMIC: COSM3400297 ; COSM3400298
• MyVariant Identifiers: chr1:g.215853692G>A (hg19) ; chr1:g.215680350G>A (hg38)
• PubMed: PMID:18273898 ; PMID:19881469 ; PMID:20507924 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680350G>A , CM000663.2:g.215680350G>A	GRCh38
NC_000001.10:g.215853692G>A , CM000663.1:g.215853692G>A	GRCh37
NC_000001.9:g.213920315G>A	NCBI36
NG_009497.1:g.748047C>T
NG_009497.2:g.748099C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.12093C>T MANE Select	ENSP00000305941.3:p.Tyr4031=
ENST00000674083.1:c.12093C>T	ENSP00000501296.1:p.Tyr4031=
ENST00000307340.7:c.12093C>T	ENSP00000305941.3:p.Tyr4031=
NM_206933.2:c.12093C>T	NP_996816.2:p.Tyr4031=
NM_206933.3:c.12093C>T	NP_996816.2:p.Tyr4031=
NM_206933.4:c.12093C>T MANE Select	NP_996816.3:p.Tyr4031=