Canonical Allele Identifier: CA1393757

Gene: USH2A

Linked Data

• ClinVar Variation Id: 427867
• ClinVar RCV Id: RCV000515699 ; RCV001074399 ; RCV001386131 ; RCV001376314
• dbSNP Id: rs753886165
• ExAC: 1:215931934 T / A
• gnomAD v2: 1-215931934-T-A
• gnomAD v3: 1-215758592-T-A
• gnomAD v4: 1-215758592-T-A
• MyVariant Identifiers: chr1:g.215931934T>A (hg19) ; chr1:g.215931934_215931940delinsAACCTGG (hg19) ; chr1:g.215758592T>A (hg38) ; chr1:g.215758592_215758598delinsAACCTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215758592T>A , CM000663.2:g.215758592T>A	GRCh38
NC_000001.10:g.215931934T>A , CM000663.1:g.215931934T>A	GRCh37
NC_000001.9:g.213998557T>A	NCBI36
NG_009497.1:g.669805A>T
NG_009497.2:g.669857A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11389+3A>T MANE Select	ENSP00000305941.3:n.11389+3A>T
ENST00000674083.1:c.11389+3A>T	ENSP00000501296.1:n.11389+3A>T
ENST00000307340.7:c.11389+3A>T	ENSP00000305941.3:n.11389+3A>T
NM_206933.2:c.11389+3A>T	NP_996816.2:n.11389+3A>T
NM_206933.3:c.11389+3A>T	NP_996816.2:n.11389+3A>T
NM_206933.4:c.11389+3A>T MANE Select	NP_996816.3:n.11389+3A>T