Canonical Allele Identifier: CA143326

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48422
• ClinVar RCV Id: RCV000041745 ; RCV000585560 ; RCV001272941 ; RCV001376370 ; RCV003887893
• dbSNP Id: rs730254
• ExAC: 1:215847544 C / T
• gnomAD v2: 1-215847544-C-T
• gnomAD v3: 1-215674202-C-T
• gnomAD v4: 1-215674202-C-T
• MyVariant Identifiers: chr1:g.215847544C>T (hg19) ; chr1:g.215674202C>T (hg38)
• PubMed: PMID:20507924 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674202C>T , CM000663.2:g.215674202C>T	GRCh38
NC_000001.10:g.215847544C>T , CM000663.1:g.215847544C>T	GRCh37
NC_000001.9:g.213914167C>T	NCBI36
NG_009497.1:g.754195G>A
NG_009497.2:g.754247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13709G>A MANE Select	ENSP00000305941.3:p.Arg4570His
ENST00000674083.1:c.13709G>A	ENSP00000501296.1:p.Arg4570His
ENST00000307340.7:c.13709G>A	ENSP00000305941.3:p.Arg4570His
NM_206933.2:c.13709G>A	NP_996816.2:p.Arg4570His
NM_206933.3:c.13709G>A	NP_996816.2:p.Arg4570His
NM_206933.4:c.13709G>A MANE Select	NP_996816.3:p.Arg4570His