Canonical Allele Identifier: CA1392895

Gene: USH2A

Linked Data

• ClinVar Variation Id: 229622
• ClinVar RCV Id: RCV000218549 ; RCV000668291 ; RCV001034435
• dbSNP Id: rs764124390
• ExAC: 1:215813966 C / T
• gnomAD v2: 1-215813966-C-T
• gnomAD v4: 1-215640624-C-T
• MyVariant Identifiers: chr1:g.215813966C>T (hg19) ; chr1:g.215640624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640624C>T , CM000663.2:g.215640624C>T	GRCh38
NC_000001.10:g.215813966C>T , CM000663.1:g.215813966C>T	GRCh37
NC_000001.9:g.213880589C>T	NCBI36
NG_009497.1:g.787773G>A
NG_009497.2:g.787825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14902G>A MANE Select	ENSP00000305941.3:p.Asp4968Asn
ENST00000674083.1:c.14902G>A	ENSP00000501296.1:p.Asp4968Asn
ENST00000307340.7:c.14902G>A	ENSP00000305941.3:p.Asp4968Asn
NM_206933.2:c.14902G>A	NP_996816.2:p.Asp4968Asn
NM_206933.3:c.14902G>A	NP_996816.2:p.Asp4968Asn
NM_206933.4:c.14902G>A MANE Select	NP_996816.3:p.Asp4968Asn