Canonical Allele Identifier: CA275134

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 195916
• ClinVar RCV Id: RCV000176600 ; RCV003445606
• dbSNP Id: rs794727408
• MyVariant Identifiers: chr1:g.216258039C>A (hg19) ; chr1:g.216084697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216084697C>A , CM000663.2:g.216084697C>A	GRCh38
NC_000001.10:g.216258039C>A , CM000663.1:g.216258039C>A	GRCh37
NC_000001.9:g.214324662C>A	NCBI36
NG_009497.1:g.343700G>T
NG_009497.2:g.343752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5167+1G>T (USH2A) MANE Select	ENSP00000305941.3:n.5167+1G>T
ENST00000674083.1:c.5167+1G>T (USH2A)	ENSP00000501296.1:n.5167+1G>T
ENST00000307340.7:c.5167+1G>T (USH2A)	ENSP00000305941.3:n.5167+1G>T
ENST00000463147.1:n.411+1G>T (USH2A)
ENST00000481786.1:n.409+1G>T (USH2A)
NM_206933.2:c.5167+1G>T (USH2A)	NP_996816.2:n.5167+1G>T
NR_125992.1:n.266-2025C>A (USH2A-AS2)
NR_125993.1:n.137-2025C>A (USH2A-AS2)
NM_206933.3:c.5167+1G>T (USH2A)	NP_996816.2:n.5167+1G>T
NM_206933.4:c.5167+1G>T (USH2A) MANE Select	NP_996816.3:n.5167+1G>T