Canonical Allele Identifier: CA262107

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 48543
• ClinVar RCV Id: RCV000041869 ; RCV000668739 ; RCV001289411 ; RCV003450858 ; RCV003450859
• dbSNP Id: rs397518021
• gnomAD v2: 1-216246300-G-A
• gnomAD v3: 1-216072958-G-A
• gnomAD v4: 1-216072958-G-A
• COSMIC: COSM1931487 ; COSM4231545
• MyVariant Identifiers: chr1:g.216246300G>A (hg19) ; chr1:g.216072958G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216072958G>A , CM000663.2:g.216072958G>A	GRCh38
NC_000001.10:g.216246300G>A , CM000663.1:g.216246300G>A	GRCh37
NC_000001.9:g.214312923G>A	NCBI36
NG_009497.1:g.355439C>T
NG_009497.2:g.355491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5788C>T (USH2A) MANE Select	ENSP00000305941.3:p.Arg1930Ter
ENST00000674083.1:c.5788C>T (USH2A)	ENSP00000501296.1:p.Arg1930Ter
ENST00000307340.7:c.5788C>T (USH2A)	ENSP00000305941.3:p.Arg1930Ter
NM_206933.2:c.5788C>T (USH2A)	NP_996816.2:p.Arg1930Ter
NR_125992.1:n.136+358G>A (USH2A-AS2)
NR_125993.1:n.136+358G>A (USH2A-AS2)
NM_206933.3:c.5788C>T (USH2A)	NP_996816.2:p.Arg1930Ter
NM_206933.4:c.5788C>T (USH2A) MANE Select	NP_996816.3:p.Arg1930Ter