Canonical Allele Identifier: CA262110

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48545
• ClinVar RCV Id: RCV000041871 ; RCV000665613 ; RCV000821430 ; RCV001826596 ; RCV003445127
• dbSNP Id: rs397518023
• gnomAD v2: 1-216243635-C-T
• gnomAD v4: 1-216070293-C-T
• MyVariant Identifiers: chr1:g.216243635C>T (hg19) ; chr1:g.216070293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070293C>T , CM000663.2:g.216070293C>T	GRCh38
NC_000001.10:g.216243635C>T , CM000663.1:g.216243635C>T	GRCh37
NC_000001.9:g.214310258C>T	NCBI36
NG_009497.1:g.358104G>A
NG_009497.2:g.358156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-1G>A MANE Select	ENSP00000305941.3:n.5858-1G>A
ENST00000674083.1:c.5858-1G>A	ENSP00000501296.1:n.5858-1G>A
ENST00000307340.7:c.5858-1G>A	ENSP00000305941.3:n.5858-1G>A
NM_206933.2:c.5858-1G>A	NP_996816.2:n.5858-1G>A
NM_206933.3:c.5858-1G>A	NP_996816.2:n.5858-1G>A
NM_206933.4:c.5858-1G>A MANE Select	NP_996816.3:n.5858-1G>A