Canonical Allele Identifier: CA262069

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48376
• ClinVar RCV Id: RCV000041697 ; RCV001199582 ; RCV003445116 ; RCV003445115
• dbSNP Id: rs397517974
• gnomAD v2: 1-216498646-C-T
• gnomAD v4: 1-216325304-C-T
• MyVariant Identifiers: chr1:g.216498646C>T (hg19) ; chr1:g.216325304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325304C>T , CM000663.2:g.216325304C>T	GRCh38
NC_000001.10:g.216498646C>T , CM000663.1:g.216498646C>T	GRCh37
NC_000001.9:g.214565269C>T	NCBI36
NG_009497.1:g.103093G>A
NG_009497.2:g.103145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.1143+1G>A MANE Select	ENSP00000305941.3:n.1143+1G>A
ENST00000674083.1:c.1143+1G>A	ENSP00000501296.1:n.1143+1G>A
ENST00000307340.7:c.1143+1G>A	ENSP00000305941.3:n.1143+1G>A
ENST00000366942.3:c.1143+1G>A	ENSP00000355909.3:n.1143+1G>A
NM_007123.5:c.1143+1G>A	NP_009054.5:n.1143+1G>A
NM_206933.2:c.1143+1G>A	NP_996816.2:n.1143+1G>A
NM_206933.3:c.1143+1G>A	NP_996816.2:n.1143+1G>A
NM_007123.6:c.1143+1G>A	NP_009054.6:n.1143+1G>A
NM_206933.4:c.1143+1G>A MANE Select	NP_996816.3:n.1143+1G>A