Canonical Allele Identifier: CA262064

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48357
• ClinVar RCV Id: RCV000041678 ; RCV000522247 ; RCV000664676 ; RCV003450739 ; RCV003450740
• dbSNP Id: rs111033418
• gnomAD v4: 1-215780023-G-A
• MyVariant Identifiers: chr1:g.215953365G>A (hg19) ; chr1:g.215780023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780023G>A , CM000663.2:g.215780023G>A	GRCh38
NC_000001.10:g.215953365G>A , CM000663.1:g.215953365G>A	GRCh37
NC_000001.9:g.214019988G>A	NCBI36
NG_009497.1:g.648374C>T
NG_009497.2:g.648426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10759C>T MANE Select	ENSP00000305941.3:p.Gln3587Ter
ENST00000674083.1:c.10759C>T	ENSP00000501296.1:p.Gln3587Ter
ENST00000307340.7:c.10759C>T	ENSP00000305941.3:p.Gln3587Ter
NM_206933.2:c.10759C>T	NP_996816.2:p.Gln3587Ter
NM_206933.3:c.10759C>T	NP_996816.2:p.Gln3587Ter
NM_206933.4:c.10759C>T MANE Select	NP_996816.3:p.Gln3587Ter