Canonical Allele Identifier: CA143525

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 48538
• ClinVar RCV Id: RCV000041864 ; RCV000903235 ; RCV001810413
• dbSNP Id: rs201026468
• ExAC: 1:216246517 A / C
• gnomAD v2: 1-216246517-A-C
• gnomAD v3: 1-216073175-A-C
• gnomAD v4: 1-216073175-A-C
• MyVariant Identifiers: chr1:g.216246517A>C (hg19) ; chr1:g.216073175A>C (hg38)
• PubMed: PMID:27460420 ; PMID:28224992

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216073175A>C , CM000663.2:g.216073175A>C	GRCh38
NC_000001.10:g.216246517A>C , CM000663.1:g.216246517A>C	GRCh37
NC_000001.9:g.214313140A>C	NCBI36
NG_009497.1:g.355222T>G
NG_009497.2:g.355274T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5698T>G (USH2A) MANE Select	ENSP00000305941.3:p.Cys1900Gly
ENST00000674083.1:c.5698T>G (USH2A)	ENSP00000501296.1:p.Cys1900Gly
ENST00000307340.7:c.5698T>G (USH2A)	ENSP00000305941.3:p.Cys1900Gly
NM_206933.2:c.5698T>G (USH2A)	NP_996816.2:p.Cys1900Gly
NR_125992.1:n.136+575A>C (USH2A-AS2)
NR_125993.1:n.136+575A>C (USH2A-AS2)
NM_206933.3:c.5698T>G (USH2A)	NP_996816.2:p.Cys1900Gly
NM_206933.4:c.5698T>G (USH2A) MANE Select	NP_996816.3:p.Cys1900Gly