Canonical Allele Identifier: CA262093

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48449
• ClinVar RCV Id: RCV000041772 ; RCV000671978 ; RCV001852859 ; RCV000787726 ; RCV003450802 ; RCV003114221 ; RCV003450801
• dbSNP Id: rs397517994
• gnomAD v2: 1-215813957-G-A
• gnomAD v3: 1-215640615-G-A
• gnomAD v4: 1-215640615-G-A
• COSMIC: COSM903825 ; COSM4231124
• MyVariant Identifiers: chr1:g.215813957G>A (hg19) ; chr1:g.215640615G>A (hg38)
• PubMed: PMID:18665195 ; PMID:22135276

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640615G>A , CM000663.2:g.215640615G>A	GRCh38
NC_000001.10:g.215813957G>A , CM000663.1:g.215813957G>A	GRCh37
NC_000001.9:g.213880580G>A	NCBI36
NG_009497.1:g.787782C>T
NG_009497.2:g.787834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14911C>T MANE Select	ENSP00000305941.3:p.Arg4971Ter
ENST00000674083.1:c.14911C>T	ENSP00000501296.1:p.Arg4971Ter
ENST00000307340.7:c.14911C>T	ENSP00000305941.3:p.Arg4971Ter
NM_206933.2:c.14911C>T	NP_996816.2:p.Arg4971Ter
NM_206933.3:c.14911C>T	NP_996816.2:p.Arg4971Ter
NM_206933.4:c.14911C>T MANE Select	NP_996816.3:p.Arg4971Ter