Canonical Allele Identifier: CA10581641

Gene: USH2A

Linked Data

• ClinVar Variation Id: 236543
• ClinVar RCV Id: RCV000225627 ; RCV000281204 ; RCV000504766 ; RCV000669603 ; RCV001833242 ; RCV003469119
• dbSNP Id: rs878853412
• gnomAD v4: 1-216048579-A-C
• MyVariant Identifiers: chr1:g.216221921A>C (hg19) ; chr1:g.216048579A>C (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216048579A>C , CM000663.2:g.216048579A>C	GRCh38
NC_000001.10:g.216221921A>C , CM000663.1:g.216221921A>C	GRCh37
NC_000001.9:g.214288544A>C	NCBI36
NG_009497.1:g.379818T>G
NG_009497.2:g.379870T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6118T>G MANE Select	ENSP00000305941.3:p.Cys2040Gly
ENST00000674083.1:c.6118T>G	ENSP00000501296.1:p.Cys2040Gly
ENST00000307340.7:c.6118T>G	ENSP00000305941.3:p.Cys2040Gly
NM_206933.2:c.6118T>G	NP_996816.2:p.Cys2040Gly
NM_206933.3:c.6118T>G	NP_996816.2:p.Cys2040Gly
NM_206933.4:c.6118T>G MANE Select	NP_996816.3:p.Cys2040Gly