Canonical Allele Identifier: CA143594

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48582
• ClinVar RCV Id: RCV000041908 ; RCV000667778 ; RCV000986529 ; RCV002513605
• dbSNP Id: rs397518030
• ExAC: 1:216074094 C / T
• gnomAD v2: 1-216074094-C-T
• gnomAD v3: 1-215900752-C-T
• gnomAD v4: 1-215900752-C-T
• MyVariant Identifiers: chr1:g.216074094C>T (hg19) ; chr1:g.215900752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215900752C>T , CM000663.2:g.215900752C>T	GRCh38
NC_000001.10:g.216074094C>T , CM000663.1:g.216074094C>T	GRCh37
NC_000001.9:g.214140717C>T	NCBI36
NG_009497.1:g.527645G>A
NG_009497.2:g.527697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7451+3G>A MANE Select	ENSP00000305941.3:n.7451+3G>A
ENST00000674083.1:c.7451+3G>A	ENSP00000501296.1:n.7451+3G>A
ENST00000307340.7:c.7451+3G>A	ENSP00000305941.3:n.7451+3G>A
NM_206933.2:c.7451+3G>A	NP_996816.2:n.7451+3G>A
NM_206933.3:c.7451+3G>A	NP_996816.2:n.7451+3G>A
NM_206933.4:c.7451+3G>A MANE Select	NP_996816.3:n.7451+3G>A