Canonical Allele Identifier: CA182602

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 167816
• ClinVar RCV Id: RCV000155329 ; RCV000723740 ; RCV001273050
• dbSNP Id: rs140080678
• ExAC: 1:216258159 T / C
• gnomAD v2: 1-216258159-T-C
• gnomAD v3: 1-216084817-T-C
• gnomAD v4: 1-216084817-T-C
• MyVariant Identifiers: chr1:g.216258159T>C (hg19) ; chr1:g.216084817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216084817T>C , CM000663.2:g.216084817T>C	GRCh38
NC_000001.10:g.216258159T>C , CM000663.1:g.216258159T>C	GRCh37
NC_000001.9:g.214324782T>C	NCBI36
NG_009497.1:g.343580A>G
NG_009497.2:g.343632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5048A>G (USH2A) MANE Select	ENSP00000305941.3:p.Asn1683Ser
ENST00000674083.1:c.5048A>G (USH2A)	ENSP00000501296.1:p.Asn1683Ser
ENST00000307340.7:c.5048A>G (USH2A)	ENSP00000305941.3:p.Asn1683Ser
ENST00000463147.1:n.292A>G (USH2A)
ENST00000481786.1:n.290A>G (USH2A)
NM_206933.2:c.5048A>G (USH2A)	NP_996816.2:p.Asn1683Ser
NR_125992.1:n.266-1905T>C (USH2A-AS2)
NR_125993.1:n.137-1905T>C (USH2A-AS2)
NM_206933.3:c.5048A>G (USH2A)	NP_996816.2:p.Asn1683Ser
NM_206933.4:c.5048A>G (USH2A) MANE Select	NP_996816.3:p.Asn1683Ser