Canonical Allele Identifier: CA182598

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 178579
• ClinVar RCV Id: RCV000155327 ; RCV000891558 ; RCV000986533 ; RCV004534990
• dbSNP Id: rs141609561
• ExAC: 1:216246591 T / C
• gnomAD v2: 1-216246591-T-C
• gnomAD v3: 1-216073249-T-C
• gnomAD v4: 1-216073249-T-C
• MyVariant Identifiers: chr1:g.216246591T>C (hg19) ; chr1:g.216073249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216073249T>C , CM000663.2:g.216073249T>C	GRCh38
NC_000001.10:g.216246591T>C , CM000663.1:g.216246591T>C	GRCh37
NC_000001.9:g.214313214T>C	NCBI36
NG_009497.1:g.355148A>G
NG_009497.2:g.355200A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5624A>G (USH2A) MANE Select	ENSP00000305941.3:p.Asn1875Ser
ENST00000674083.1:c.5624A>G (USH2A)	ENSP00000501296.1:p.Asn1875Ser
ENST00000307340.7:c.5624A>G (USH2A)	ENSP00000305941.3:p.Asn1875Ser
NM_206933.2:c.5624A>G (USH2A)	NP_996816.2:p.Asn1875Ser
NR_125992.1:n.136+649T>C (USH2A-AS2)
NR_125993.1:n.136+649T>C (USH2A-AS2)
NM_206933.3:c.5624A>G (USH2A)	NP_996816.2:p.Asn1875Ser
NM_206933.4:c.5624A>G (USH2A) MANE Select	NP_996816.3:p.Asn1875Ser