Canonical Allele Identifier: CA344858879

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 444203
• ClinVar RCV Id: RCV000513450 ; RCV000672338 ; RCV001073947 ; RCV001375184
• dbSNP Id: rs1461319754
• gnomAD v3: 1-216084747-C-T
• gnomAD v4: 1-216084747-C-T
• COSMIC: COSM5930788 ; COSM5930789
• MyVariant Identifiers: chr1:g.216258089C>T (hg19) ; chr1:g.216084747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216084747C>T , CM000663.2:g.216084747C>T	GRCh38
NC_000001.10:g.216258089C>T , CM000663.1:g.216258089C>T	GRCh37
NC_000001.9:g.214324712C>T	NCBI36
NG_009497.1:g.343650G>A
NG_009497.2:g.343702G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.5118G>A (USH2A) MANE Select	ENSP00000305941.3:p.Trp1706Ter
ENST00000674083.1:c.5118G>A (USH2A)	ENSP00000501296.1:p.Trp1706Ter
ENST00000307340.7:c.5118G>A (USH2A)	ENSP00000305941.3:p.Trp1706Ter
ENST00000463147.1:n.362G>A (USH2A)
ENST00000481786.1:n.360G>A (USH2A)
NM_206933.2:c.5118G>A (USH2A)	NP_996816.2:p.Trp1706Ter
NR_125992.1:n.266-1975C>T (USH2A-AS2)
NR_125993.1:n.137-1975C>T (USH2A-AS2)
NM_206933.3:c.5118G>A (USH2A)	NP_996816.2:p.Trp1706Ter
NM_206933.4:c.5118G>A (USH2A) MANE Select	NP_996816.3:p.Trp1706Ter