Canonical Allele Identifier: CA1394189

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438036
• ClinVar RCV Id: RCV000504661 ; RCV000593818 ; RCV001075611 ; RCV001376250 ; RCV001810454
• dbSNP Id: rs749228276
• ExAC: 1:215972325 G / C
• gnomAD v2: 1-215972325-G-C
• gnomAD v3: 1-215798983-G-C
• gnomAD v4: 1-215798983-G-C
• MyVariant Identifiers: chr1:g.215972325G>C (hg19) ; chr1:g.215798983G>C (hg38)
• PubMed: PMID:24043777 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215798983G>C , CM000663.2:g.215798983G>C	GRCh38
NC_000001.10:g.215972325G>C , CM000663.1:g.215972325G>C	GRCh37
NC_000001.9:g.214038948G>C	NCBI36
NG_009497.1:g.629414C>G
NG_009497.2:g.629466C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9882C>G MANE Select	ENSP00000305941.3:p.Cys3294Trp
ENST00000674083.1:c.9882C>G	ENSP00000501296.1:p.Cys3294Trp
ENST00000307340.7:c.9882C>G	ENSP00000305941.3:p.Cys3294Trp
NM_206933.2:c.9882C>G	NP_996816.2:p.Cys3294Trp
NM_206933.3:c.9882C>G	NP_996816.2:p.Cys3294Trp
NM_206933.4:c.9882C>G MANE Select	NP_996816.3:p.Cys3294Trp