Canonical Allele Identifier: CA143384

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48455
• ClinVar RCV Id: RCV000041778 ; RCV000087008 ; RCV000674670 ; RCV001271911
• dbSNP Id: rs56038610
• ExAC: 1:215808007 G / A
• gnomAD v2: 1-215808007-G-A
• gnomAD v3: 1-215634665-G-A
• gnomAD v4: 1-215634665-G-A
• MyVariant Identifiers: chr1:g.215808007G>A (hg19) ; chr1:g.215634665G>A (hg38)
• PubMed: PMID:18273898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215634665G>A , CM000663.2:g.215634665G>A	GRCh38
NC_000001.10:g.215808007G>A , CM000663.1:g.215808007G>A	GRCh37
NC_000001.9:g.213874630G>A	NCBI36
NG_009497.1:g.793732C>T
NG_009497.2:g.793784C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.15091C>T MANE Select	ENSP00000305941.3:p.Arg5031Trp
ENST00000674083.1:c.15091C>T	ENSP00000501296.1:p.Arg5031Trp
ENST00000307340.7:c.15091C>T	ENSP00000305941.3:p.Arg5031Trp
NM_206933.2:c.15091C>T	NP_996816.2:p.Arg5031Trp
NM_206933.3:c.15091C>T	NP_996816.2:p.Arg5031Trp
NM_206933.4:c.15091C>T MANE Select	NP_996816.3:p.Arg5031Trp